ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
5-140053845-G-A	ENST00000504156	p.Cys509Cys	Synonymous Variant	0	0	0	rs758358553
5-140053846-C-T	ENST00000504156	p.Cys509Tyr	Missense Variant	0	0	0	rs1255236125
5-140053853-A-G	ENST00000504156	p.Cys507Arg	Missense Variant	0	0	0	rs150090766
5-140053855-A-AG	ENST00000504156	p.Leu506ProfsTer7	Frameshift Variant	0	0	0	rs1188271471	lc_lof
5-140053859-G-A	ENST00000504156	p.Pro505Ser	Missense Variant	0	0	0	rs747156884
5-140053859-G-T	ENST00000504156	p.Pro505Thr	Missense Variant	0	0	0	rs747156884
5-140053860-C-A	ENST00000504156	p.Gln504His	Missense Variant	0	0	0	rs368813043
5-140053864-C-G	ENST00000504156	p.Gly503Ala	Missense Variant	0	0	0	rs781414119
5-140053865-C-T	ENST00000504156	p.Gly503Ser	Missense Variant	1	31392	0.000032	rs373031468
5-140053870-C-T	ENST00000504156	p.Arg501Lys	Missense Variant	0	0	0	rs748318331
5-140053871-T-C	ENST00000504156	p.Arg501Gly	Missense Variant	0	0	0	rs770240713
5-140053872-C-G	ENST00000504156	p.Arg500Ser	Missense Variant	0	0	0	rs1177200945
5-140053878-G-C	ENST00000504156	p.Ile498Met	Missense Variant	0	0	0	rs1358994620
5-140053885-T-C	ENST00000504156	p.Glu496Gly	Missense Variant	0	0	0	rs1464968938
5-140053888-A-G	ENST00000504156	p.Val495Ala	Missense Variant	5	31390	0.000159	rs138377835
5-140053889-C-G	ENST00000504156	p.Val495Leu	Missense Variant	1	31400	0.000032	rs1423976032
5-140053893-G-A	ENST00000504156	p.Asp493Asp	Synonymous Variant	0	0	0	rs1366581698
5-140053893-G-T	ENST00000504156	p.Asp493Glu	Missense Variant	0	0	0	rs1366581698
5-140053900-C-T	ENST00000504156	p.Arg491Lys	Missense Variant	0	0	0	rs1434406868
5-140053903-C-T	ENST00000504156	p.Arg490Gln	Missense Variant	0	0	0	rs1295541335

Showing 1 to 20 of 409 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
HARS	P12081	Ubiquitination	100	K100-ub	DtPVFELkETLMGkY	57.41	964518284
HARS	P12081	Ubiquitination	106	K106-ub	LkETLMGkYGEDSkL	57.41	21175844
HARS	P12081	Ubiquitination	112	K112-ub	GkYGEDSkLIyDLkD	57.41	21175864
HARS	P12081	Acetylation	112	K112-ac	GkYGEDSkLIyDLkD	57.41	33350742
HARS	P12081	Phosphorylation	115	Y115-p	GEDSkLIyDLkDQGG	57.41	464750
HARS	P12081	Ubiquitination	118	K118-ub	SkLIyDLkDQGGELL	57.41	21175850
HARS	P12081	Acetylation	118	K118-ac	SkLIyDLkDQGGELL	57.41	33347089
HARS	P12081	Ubiquitination	12	K12-ub	AALEELVkLQGERVR	57.41	573761446
HARS	P12081	Phosphorylation	126	S126-p	DQGGELLsLRYDLTV	57.41	31890208
HARS	P12081	Phosphorylation	138	Y138-p	LTVPFARyLAMNKLT	57.41	23112000
HARS	P12081	Phosphorylation	150	Y150-p	KLTNIKRyHIAKVyR	57.41	3913450
HARS	P12081	Phosphorylation	156	Y156-p	RyHIAKVyRRDNPAM	57.41	3913455
HARS	P12081	Phosphorylation	229	S229-p	AICGVSDskFRTICS	57.41	31876037
HARS	P12081	Ubiquitination	230	K230-ub	ICGVSDskFRTICSS	57.41	41487953
HARS	P12081	Ubiquitination	240	K240-ub	TICSSVDkLDkVSWE	57.41	964518286
HARS	P12081	Ubiquitination	243	K243-ub	SSVDkLDkVSWEEVk	57.41	964518288
HARS	P12081	Ubiquitination	250	K250-ub	kVSWEEVkNEMVGEk	57.41	21175860
HARS	P12081	Ubiquitination	257	K257-ub	kNEMVGEkGLAPEVA	57.41	21175854
HARS	P12081	Phosphorylation	27	S27-p	GLKQQKAsAELIEEE	57.41	4728938
HARS	P12081	Phosphorylation	270	Y270-p	VADRIGDyVQQHGGV	57.41	15565124

Showing 1 to 20 of 43 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
HARS	ENST00000504156	CN-AML-CR-40-Dx	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	69871612	c.300+138G>A	p.?	Unknown	NEUTRAL	.01239	Confirmed somatic variant	PMID: N/A	primary	0
HARS	ENST00000504156	BD114T	biliary_tract	carcinoma	69872035	c.*722C>T	p.?	Unknown	PATHOGENIC	.9814	Confirmed somatic variant	PMID: N/A	primary	0
HARS	ENST00000504156	853-01-9TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	69872915	c.180+2716T>C	p.?	Unknown	NEUTRAL	.00772	Confirmed somatic variant	PMID: N/A	primary	0
HARS	ENST00000504156	60T	liver	other	69872364	c.397-163T>C	p.?	Unknown	NEUTRAL	.23016	Confirmed somatic variant	PMID: N/A	primary	0
HARS	ENST00000504156	TCGA-EW-A1J5-01	breast	carcinoma	69872728	c.56G>A	p.R19Q	Substitution - Missense	PATHOGENIC	.77665	Confirmed somatic variant	PMID: N/A	primary	19
HARS	ENST00000504156	8052570	pancreas	carcinoma	69871878	c.300+1469C>T	p.?	Unknown	NEUTRAL	.03853	Confirmed somatic variant	PMID: N/A	NS	0
HARS	ENST00000504156	HCC65	liver	carcinoma	69871344	c.301-32A>G	p.?	Unknown	NEUTRAL	.18001	Confirmed somatic variant	PMID: N/A	NS	0
HARS	ENST00000504156	DCG_04	central_nervous_system	glioma	69871530	c.42G>C	p.Q14H	Substitution - Missense	PATHOGENIC	.80523	Confirmed somatic variant	PMID: 28852847	NS	14
HARS	ENST00000504156	Pat_45_B	NS	malignant_melanoma	69873261	c.211G>A	p.A71T	Substitution - Missense	PATHOGENIC	.99522	Confirmed somatic variant	PMID: 24265153	NS	71
HARS	ENST00000504156	B81-1-Tumor	urinary_tract	carcinoma	69871338	c.747G>A	p.V249=	Substitution - coding silent	PATHOGENIC	.81416	Confirmed somatic variant	PMID: N/A	NS	249
HARS	ENST00000504156	TCGA-BS-A0UA-01	endometrium	carcinoma	69871688	c.695G>A	p.R232H	Substitution - Missense	PATHOGENIC	.86071	Confirmed somatic variant	PMID: N/A	primary	232
HARS	ENST00000504156	TNKTL18	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	69871790	c.484G>T	p.A162S	Substitution - Missense	PATHOGENIC	.97525	Confirmed somatic variant	PMID: N/A	primary	162
HARS	ENST00000504156	CN-AML-08-T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	69872367	c.300+37A>C	p.?	Unknown	NEUTRAL	.34121	Confirmed somatic variant	PMID: N/A	primary	0
HARS	ENST00000504156	CRC_03	large_intestine	carcinoma	69871635	c.824-20T>C	p.?	Unknown	NEUTRAL	.30314	Confirmed somatic variant	PMID: 30239619	NS	0
HARS	ENST00000504156	TCGA-AJ-A3EK-01	endometrium	carcinoma	69872269	c.*234C>T	p.?	Unknown	NEUTRAL	.10026	Confirmed somatic variant	PMID: N/A	NS	0
HARS	ENST00000504156	TCGA-75-5126-01	lung	carcinoma	69872592	c.1417G>A	p.D473N	Substitution - Missense	PATHOGENIC	.96462	Variant of unknown origin	PMID: N/A	primary	473
HARS	ENST00000504156	TUD-AMP-729	pancreas	carcinoma	69873164	c.1293G>A	p.L431=	Substitution - coding silent	NEUTRAL	.24553	Confirmed somatic variant	PMID: 26804919	NS	431
HARS	ENST00000504156	WA16	prostate	carcinoma	69871903	c.*813G>T	p.?	Unknown	NEUTRAL	.2685	Confirmed somatic variant	PMID: 22722839	metastasis	0
HARS	ENST00000504156	2014_Lung_sq_91_T	lung	carcinoma	69872010	c.1458+7G>A	p.?	Unknown	NEUTRAL	.04928	Confirmed somatic variant	PMID: N/A	primary	0
HARS	ENST00000504156	RK306_C01	liver	carcinoma	69873252	c.180+367A>G	p.?	Unknown	NEUTRAL	.11443	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 175 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00458	WHEP-TRS	WHEP-TRS domain	7-55	CL0600	S15_NS1	Homo sapiens
PF03129	HGTP_anticodon	Anticodon binding domain	410-501	CL0458	IIaaRS-ABD	Homo sapiens
PF13393	tRNA-synt_His	Histidyl-tRNA synthetase	61-389	CL0040	tRNA_synt_II	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Autoimmune Diseases	Immune System Diseases ;	0.609	0.655
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.609	0.655
Charcot-Marie-Tooth Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.609	0.655
Lung diseases	Respiratory Tract Diseases ;	0.609	0.655
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.609	0.655
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.609	0.655
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.609	0.655
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.609	0.655
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.609	0.655
Usher Syndrome, Type III	Otorhinolaryngologic Diseases ; Nervous System Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ;	0.609	0.655
USHER SYNDROME, TYPE IIIB	N/A	0.609	0.655
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	N/A	0.609	0.655
NO RESULT FOUND

Description:	histidyl-tRNA synthetase [Source:HGNC Symbol;Acc:HGNC:4816]
Synonyms:	CMT2W, USH3B, HRS
Other ID(s):	ENSG00000170445, HGNC:4816
Protein Accession Numbers:	ENST00000415192, ENST00000507746, NP_002100, ENST00000504156, NP_001276021, ENST00000438307, NP_001244969, ENST00000307633, ENST00000504366, NP_001276023, ENST00000457527, NP_001244971, ENST00000431330, ENST00000512396, ENST00000504156.1, NP_001276022, ENST00000448240, NP_001244970
Statistics:	ClinVar(187) gnomAD(409) COSMIC(175) PTM(43)

Classification of Clinicial Significance of ClinVar Data