Canonical Allele Identifier: CA1697808093

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609710G= , CM000669.2:g.30609710G=	GRCh38
NC_000007.13:g.30649326G= , CM000669.1:g.30649326G=	GRCh37
NC_000007.12:g.30615851G=	NCBI36
NG_007942.1:g.20146G= , LRG_243:g.20146G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.861G= MANE Select	ENSP00000373918.3:p.Gly287=
ENST00000444666.6:c.861G=	ENSP00000415447.2:p.Gly287=
ENST00000470392.2:n.951G=
ENST00000478124.6:n.924G=
ENST00000485784.2:n.940G=
ENST00000674616.1:c.*575G=	ENSP00000502408.1:n.*575G=
ENST00000674643.1:c.861G=	ENSP00000501636.1:p.Gly287=
ENST00000674734.1:n.1357G=
ENST00000674737.1:c.*199G=	ENSP00000502464.1:n.*199G=
ENST00000674807.1:c.861G=	ENSP00000502814.1:p.Gly287=
ENST00000674815.1:c.492G=	ENSP00000502799.1:p.Gly164=
ENST00000674851.1:c.492G=	ENSP00000502451.1:p.Gly164=
ENST00000674969.1:n.2734G=
ENST00000675051.1:c.660G=	ENSP00000502296.1:p.Gly220=
ENST00000675529.1:c.*731G=	ENSP00000501655.1:n.*731G=
ENST00000675587.1:n.877G=
ENST00000675651.1:c.861G=	ENSP00000502513.1:p.Gly287=
ENST00000675693.1:c.693G=	ENSP00000502174.1:p.Gly231=
ENST00000675810.1:c.759G=	ENSP00000502743.1:p.Gly253=
ENST00000675859.1:c.861G=	ENSP00000502033.1:p.Gly287=
ENST00000675863.1:n.869G=
ENST00000675886.1:n.6901G=
ENST00000676088.1:c.*803G=	ENSP00000501884.1:n.*803G=
ENST00000676140.1:c.861G=	ENSP00000502571.1:p.Gly287=
ENST00000676164.1:c.*312G=	ENSP00000501986.1:n.*312G=
ENST00000676210.1:c.*150G=	ENSP00000502373.1:n.*150G=
ENST00000676259.1:c.*293G=	ENSP00000501980.1:n.*293G=
ENST00000676403.1:c.861G=	ENSP00000502681.1:p.Gly287=
ENST00000389266.7:c.861G=	ENSP00000373918.3:p.Gly287=
ENST00000478124.5:n.899G=
NM_001316772.1:c.699G=	NP_001303701.1:p.Gly233=
NM_002047.2:c.861G= , LRG_243t1:c.861G=	NP_002038.2:p.Gly287=
NM_002047.3:c.861G=	NP_002038.2:p.Gly287=
XM_006715686.1:c.492G=	XP_006715749.1:p.Gly164=
XM_006715686.2:c.492G=	XP_006715749.1:p.Gly164=
NM_002047.4:c.861G= MANE Select	NP_002038.2:p.Gly287=