Canonical Allele Identifier: CA1697811083

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612140A= , CM000669.2:g.30612140A=	GRCh38
NC_000007.13:g.30651756A= , CM000669.1:g.30651756A=	GRCh37
NC_000007.12:g.30618281A=	NCBI36
NG_007942.1:g.22576A= , LRG_243:g.22576A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.926A= MANE Select	ENSP00000373918.3:p.Lys309=
ENST00000444666.6:c.926A=	ENSP00000415447.2:p.Lys309=
ENST00000470392.2:n.1016A=
ENST00000478124.6:n.989A=
ENST00000485784.2:n.1005A=
ENST00000674616.1:c.*640A=	ENSP00000502408.1:n.*640A=
ENST00000674643.1:c.926A=	ENSP00000501636.1:p.Lys309=
ENST00000674734.1:n.1422A=
ENST00000674737.1:c.*264A=	ENSP00000502464.1:n.*264A=
ENST00000674807.1:c.926A=	ENSP00000502814.1:p.Lys309=
ENST00000674815.1:c.557A=	ENSP00000502799.1:p.Lys186=
ENST00000674851.1:c.557A=	ENSP00000502451.1:p.Lys186=
ENST00000674969.1:n.2799A=
ENST00000675051.1:c.725A=	ENSP00000502296.1:p.Lys242=
ENST00000675529.1:c.*796A=	ENSP00000501655.1:n.*796A=
ENST00000675587.1:n.942A=
ENST00000675651.1:c.926A=	ENSP00000502513.1:p.Lys309=
ENST00000675693.1:c.758A=	ENSP00000502174.1:p.Lys253=
ENST00000675810.1:c.824A=	ENSP00000502743.1:p.Lys275=
ENST00000675859.1:c.926A=	ENSP00000502033.1:p.Lys309=
ENST00000675863.1:n.934A=
ENST00000675886.1:n.6966A=
ENST00000676088.1:c.*868A=	ENSP00000501884.1:n.*868A=
ENST00000676140.1:c.926A=	ENSP00000502571.1:p.Lys309=
ENST00000676164.1:c.*377A=	ENSP00000501986.1:n.*377A=
ENST00000676210.1:c.*215A=	ENSP00000502373.1:n.*215A=
ENST00000676259.1:c.*358A=	ENSP00000501980.1:n.*358A=
ENST00000676403.1:c.926A=	ENSP00000502681.1:p.Lys309=
ENST00000389266.7:c.926A=	ENSP00000373918.3:p.Lys309=
ENST00000478124.5:n.964A=
NM_001316772.1:c.764A=	NP_001303701.1:p.Lys255=
NM_002047.2:c.926A= , LRG_243t1:c.926A=	NP_002038.2:p.Lys309=
NM_002047.3:c.926A=	NP_002038.2:p.Lys309=
XM_006715686.1:c.557A=	XP_006715749.1:p.Lys186=
XM_006715686.2:c.557A=	XP_006715749.1:p.Lys186=
NM_002047.4:c.926A= MANE Select	NP_002038.2:p.Lys309=