Canonical Allele Identifier: CA1697811106

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612165A= , CM000669.2:g.30612165A=	GRCh38
NC_000007.13:g.30651781A= , CM000669.1:g.30651781A=	GRCh37
NC_000007.12:g.30618306A=	NCBI36
NG_007942.1:g.22601A= , LRG_243:g.22601A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.951A= MANE Select	ENSP00000373918.3:p.Gly317=
ENST00000444666.6:c.951A=	ENSP00000415447.2:p.Gly317=
ENST00000470392.2:n.1041A=
ENST00000478124.6:n.1014A=
ENST00000485784.2:n.1030A=
ENST00000674616.1:c.*665A=	ENSP00000502408.1:n.*665A=
ENST00000674643.1:c.951A=	ENSP00000501636.1:p.Gly317=
ENST00000674734.1:n.1447A=
ENST00000674737.1:c.*289A=	ENSP00000502464.1:n.*289A=
ENST00000674807.1:c.951A=	ENSP00000502814.1:p.Gly317=
ENST00000674815.1:c.582A=	ENSP00000502799.1:p.Gly194=
ENST00000674851.1:c.582A=	ENSP00000502451.1:p.Gly194=
ENST00000674969.1:n.2824A=
ENST00000675051.1:c.750A=	ENSP00000502296.1:p.Gly250=
ENST00000675529.1:c.*821A=	ENSP00000501655.1:n.*821A=
ENST00000675587.1:n.967A=
ENST00000675651.1:c.951A=	ENSP00000502513.1:p.Gly317=
ENST00000675693.1:c.783A=	ENSP00000502174.1:p.Gly261=
ENST00000675810.1:c.849A=	ENSP00000502743.1:p.Gly283=
ENST00000675859.1:c.951A=	ENSP00000502033.1:p.Gly317=
ENST00000675863.1:n.959A=
ENST00000675886.1:n.6991A=
ENST00000676088.1:c.*893A=	ENSP00000501884.1:n.*893A=
ENST00000676140.1:c.951A=	ENSP00000502571.1:p.Gly317=
ENST00000676164.1:c.*402A=	ENSP00000501986.1:n.*402A=
ENST00000676210.1:c.*240A=	ENSP00000502373.1:n.*240A=
ENST00000676259.1:c.*383A=	ENSP00000501980.1:n.*383A=
ENST00000676403.1:c.951A=	ENSP00000502681.1:p.Gly317=
ENST00000389266.7:c.951A=	ENSP00000373918.3:p.Gly317=
ENST00000478124.5:n.989A=
NM_001316772.1:c.789A=	NP_001303701.1:p.Gly263=
NM_002047.2:c.951A= , LRG_243t1:c.951A=	NP_002038.2:p.Gly317=
NM_002047.3:c.951A=	NP_002038.2:p.Gly317=
XM_006715686.1:c.582A=	XP_006715749.1:p.Gly194=
XM_006715686.2:c.582A=	XP_006715749.1:p.Gly194=
NM_002047.4:c.951A= MANE Select	NP_002038.2:p.Gly317=