Canonical Allele Identifier: CA367125157

Gene: GARS1

Linked Data

• ClinVar Variation Id: 661670
• ClinVar RCV Id: RCV000819141 ; RCV001823170
• dbSNP Id: rs1584034430
• MyVariant Identifiers: chr7:g.30651809G>A (hg19) ; chr7:g.30612193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612193G>A , CM000669.2:g.30612193G>A	GRCh38
NC_000007.13:g.30651809G>A , CM000669.1:g.30651809G>A	GRCh37
NC_000007.12:g.30618334G>A	NCBI36
NG_007942.1:g.22629G>A , LRG_243:g.22629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.979G>A MANE Select	ENSP00000373918.3:p.Gly327Arg
ENST00000444666.6:c.979G>A	ENSP00000415447.2:p.Gly327Arg
ENST00000470392.2:n.1069G>A
ENST00000478124.6:n.1042G>A
ENST00000485784.2:n.1058G>A
ENST00000674616.1:c.*693G>A	ENSP00000502408.1:n.*693G>A
ENST00000674643.1:c.979G>A	ENSP00000501636.1:p.Gly327Arg
ENST00000674734.1:n.1475G>A
ENST00000674737.1:c.*317G>A	ENSP00000502464.1:n.*317G>A
ENST00000674807.1:c.979G>A	ENSP00000502814.1:p.Gly327Arg
ENST00000674815.1:c.610G>A	ENSP00000502799.1:p.Gly204Arg
ENST00000674851.1:c.610G>A	ENSP00000502451.1:p.Gly204Arg
ENST00000674969.1:n.2852G>A
ENST00000675051.1:c.778G>A	ENSP00000502296.1:p.Gly260Arg
ENST00000675529.1:c.*849G>A	ENSP00000501655.1:n.*849G>A
ENST00000675587.1:n.995G>A
ENST00000675651.1:c.979G>A	ENSP00000502513.1:p.Gly327Arg
ENST00000675693.1:c.811G>A	ENSP00000502174.1:p.Gly271Arg
ENST00000675810.1:c.877G>A	ENSP00000502743.1:p.Gly293Arg
ENST00000675859.1:c.979G>A	ENSP00000502033.1:p.Gly327Arg
ENST00000675863.1:n.987G>A
ENST00000675886.1:n.7019G>A
ENST00000676088.1:c.*921G>A	ENSP00000501884.1:n.*921G>A
ENST00000676140.1:c.979G>A	ENSP00000502571.1:p.Gly327Arg
ENST00000676164.1:c.*430G>A	ENSP00000501986.1:n.*430G>A
ENST00000676210.1:c.*268G>A	ENSP00000502373.1:n.*268G>A
ENST00000676259.1:c.*411G>A	ENSP00000501980.1:n.*411G>A
ENST00000676403.1:c.979G>A	ENSP00000502681.1:p.Gly327Arg
ENST00000389266.7:c.979G>A	ENSP00000373918.3:p.Gly327Arg
ENST00000478124.5:n.1017G>A
NM_001316772.1:c.817G>A	NP_001303701.1:p.Gly273Arg
NM_002047.2:c.979G>A , LRG_243t1:c.979G>A	NP_002038.2:p.Gly327Arg
NM_002047.3:c.979G>A	NP_002038.2:p.Gly327Arg
XM_006715686.1:c.610G>A	XP_006715749.1:p.Gly204Arg
XM_006715686.2:c.610G>A	XP_006715749.1:p.Gly204Arg
NM_002047.4:c.979G>A MANE Select	NP_002038.2:p.Gly327Arg