Canonical Allele Identifier: CA156054865

Gene: GARS1

Linked Data

• ClinVar Variation Id: 1680934
• ClinVar RCV Id: RCV002238452 ; RCV003126204
• dbSNP Id: rs924595179
• gnomAD v4: 7-30621412-G-C
• MyVariant Identifiers: chr7:g.30661028G>C (hg19) ; chr7:g.30621412G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621412G>C , CM000669.2:g.30621412G>C	GRCh38
NC_000007.13:g.30661028G>C , CM000669.1:g.30661028G>C	GRCh37
NC_000007.12:g.30627553G>C	NCBI36
NG_007942.1:g.31848G>C , LRG_243:g.31848G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1379G>C MANE Select	ENSP00000373918.3:p.Gly460Ala
ENST00000444666.6:c.1379G>C	ENSP00000415447.2:p.Gly460Ala
ENST00000470392.2:n.1469G>C
ENST00000478124.6:n.1442G>C
ENST00000485784.2:n.1458G>C
ENST00000674616.1:c.*1093G>C	ENSP00000502408.1:n.*1093G>C
ENST00000674643.1:c.*479G>C	ENSP00000501636.1:n.*479G>C
ENST00000674734.1:n.1875G>C
ENST00000674737.1:c.*717G>C	ENSP00000502464.1:n.*717G>C
ENST00000674807.1:c.1379G>C	ENSP00000502814.1:p.Gly460Ala
ENST00000674815.1:c.1010G>C	ENSP00000502799.1:p.Gly337Ala
ENST00000674851.1:c.1010G>C	ENSP00000502451.1:p.Gly337Ala
ENST00000674969.1:n.3252G>C
ENST00000675051.1:c.1178G>C	ENSP00000502296.1:p.Gly393Ala
ENST00000675529.1:c.*1249G>C	ENSP00000501655.1:n.*1249G>C
ENST00000675587.1:n.1395G>C
ENST00000675651.1:c.1379G>C	ENSP00000502513.1:p.Gly460Ala
ENST00000675693.1:c.1211G>C	ENSP00000502174.1:p.Gly404Ala
ENST00000675810.1:c.1277G>C	ENSP00000502743.1:p.Gly426Ala
ENST00000675859.1:c.1379G>C	ENSP00000502033.1:p.Gly460Ala
ENST00000675863.1:n.1387G>C
ENST00000675886.1:n.7419G>C
ENST00000676088.1:c.*1321G>C	ENSP00000501884.1:n.*1321G>C
ENST00000676140.1:c.*324G>C	ENSP00000502571.1:n.*324G>C
ENST00000676164.1:c.*830G>C	ENSP00000501986.1:n.*830G>C
ENST00000676210.1:c.*668G>C	ENSP00000502373.1:n.*668G>C
ENST00000676259.1:c.*811G>C	ENSP00000501980.1:n.*811G>C
ENST00000676403.1:c.1379G>C	ENSP00000502681.1:p.Gly460Ala
ENST00000389266.7:c.1379G>C	ENSP00000373918.3:p.Gly460Ala
ENST00000478124.5:n.1417G>C
ENST00000484093.1:n.378G>C
NM_001316772.1:c.1217G>C	NP_001303701.1:p.Gly406Ala
NM_002047.2:c.1379G>C , LRG_243t1:c.1379G>C	NP_002038.2:p.Gly460Ala
NM_002047.3:c.1379G>C	NP_002038.2:p.Gly460Ala
XM_006715686.1:c.1010G>C	XP_006715749.1:p.Gly337Ala
XM_006715686.2:c.1010G>C	XP_006715749.1:p.Gly337Ala
NM_002047.4:c.1379G>C MANE Select	NP_002038.2:p.Gly460Ala