Canonical Allele Identifier: CA367125617

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651860A>T (hg19) ; chr7:g.30612244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612244A>T , CM000669.2:g.30612244A>T	GRCh38
NC_000007.13:g.30651860A>T , CM000669.1:g.30651860A>T	GRCh37
NC_000007.12:g.30618385A>T	NCBI36
NG_007942.1:g.22680A>T , LRG_243:g.22680A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1030A>T MANE Select	ENSP00000373918.3:p.Arg344Ter
ENST00000444666.6:c.1030A>T	ENSP00000415447.2:p.Arg344Ter
ENST00000470392.2:n.1120A>T
ENST00000478124.6:n.1093A>T
ENST00000485784.2:n.1109A>T
ENST00000674616.1:c.*744A>T	ENSP00000502408.1:n.*744A>T
ENST00000674643.1:c.1030A>T	ENSP00000501636.1:p.Ser344Cys
ENST00000674734.1:n.1526A>T
ENST00000674737.1:c.*368A>T	ENSP00000502464.1:n.*368A>T
ENST00000674807.1:c.1030A>T	ENSP00000502814.1:p.Arg344Ter
ENST00000674815.1:c.661A>T	ENSP00000502799.1:p.Arg221Ter
ENST00000674851.1:c.661A>T	ENSP00000502451.1:p.Arg221Ter
ENST00000674969.1:n.2903A>T
ENST00000675051.1:c.829A>T	ENSP00000502296.1:p.Arg277Ter
ENST00000675529.1:c.*900A>T	ENSP00000501655.1:n.*900A>T
ENST00000675587.1:n.1046A>T
ENST00000675651.1:c.1030A>T	ENSP00000502513.1:p.Arg344Ter
ENST00000675693.1:c.862A>T	ENSP00000502174.1:p.Arg288Ter
ENST00000675810.1:c.928A>T	ENSP00000502743.1:p.Arg310Ter
ENST00000675859.1:c.1030A>T	ENSP00000502033.1:p.Arg344Ter
ENST00000675863.1:n.1038A>T
ENST00000675886.1:n.7070A>T
ENST00000676088.1:c.*972A>T	ENSP00000501884.1:n.*972A>T
ENST00000676140.1:c.1030A>T	ENSP00000502571.1:p.Arg344Ter
ENST00000676164.1:c.*481A>T	ENSP00000501986.1:n.*481A>T
ENST00000676210.1:c.*319A>T	ENSP00000502373.1:n.*319A>T
ENST00000676259.1:c.*462A>T	ENSP00000501980.1:n.*462A>T
ENST00000676403.1:c.1030A>T	ENSP00000502681.1:p.Arg344Ter
ENST00000389266.7:c.1030A>T	ENSP00000373918.3:p.Arg344Ter
ENST00000478124.5:n.1068A>T
NM_001316772.1:c.868A>T	NP_001303701.1:p.Arg290Ter
NM_002047.2:c.1030A>T , LRG_243t1:c.1030A>T	NP_002038.2:p.Arg344Ter
NM_002047.3:c.1030A>T	NP_002038.2:p.Arg344Ter
XM_006715686.1:c.661A>T	XP_006715749.1:p.Arg221Ter
XM_006715686.2:c.661A>T	XP_006715749.1:p.Arg221Ter
NM_002047.4:c.1030A>T MANE Select	NP_002038.2:p.Arg344Ter