Canonical Allele Identifier: CA1697811198

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612214A= , CM000669.2:g.30612214A=	GRCh38
NC_000007.13:g.30651830A= , CM000669.1:g.30651830A=	GRCh37
NC_000007.12:g.30618355A=	NCBI36
NG_007942.1:g.22650A= , LRG_243:g.22650A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1000A= MANE Select	ENSP00000373918.3:p.Ile334=
ENST00000444666.6:c.1000A=	ENSP00000415447.2:p.Ile334=
ENST00000470392.2:n.1090A=
ENST00000478124.6:n.1063A=
ENST00000485784.2:n.1079A=
ENST00000674616.1:c.*714A=	ENSP00000502408.1:n.*714A=
ENST00000674643.1:c.1000A=	ENSP00000501636.1:p.Ile334=
ENST00000674734.1:n.1496A=
ENST00000674737.1:c.*338A=	ENSP00000502464.1:n.*338A=
ENST00000674807.1:c.1000A=	ENSP00000502814.1:p.Ile334=
ENST00000674815.1:c.631A=	ENSP00000502799.1:p.Ile211=
ENST00000674851.1:c.631A=	ENSP00000502451.1:p.Ile211=
ENST00000674969.1:n.2873A=
ENST00000675051.1:c.799A=	ENSP00000502296.1:p.Ile267=
ENST00000675529.1:c.*870A=	ENSP00000501655.1:n.*870A=
ENST00000675587.1:n.1016A=
ENST00000675651.1:c.1000A=	ENSP00000502513.1:p.Ile334=
ENST00000675693.1:c.832A=	ENSP00000502174.1:p.Ile278=
ENST00000675810.1:c.898A=	ENSP00000502743.1:p.Ile300=
ENST00000675859.1:c.1000A=	ENSP00000502033.1:p.Ile334=
ENST00000675863.1:n.1008A=
ENST00000675886.1:n.7040A=
ENST00000676088.1:c.*942A=	ENSP00000501884.1:n.*942A=
ENST00000676140.1:c.1000A=	ENSP00000502571.1:p.Ile334=
ENST00000676164.1:c.*451A=	ENSP00000501986.1:n.*451A=
ENST00000676210.1:c.*289A=	ENSP00000502373.1:n.*289A=
ENST00000676259.1:c.*432A=	ENSP00000501980.1:n.*432A=
ENST00000676403.1:c.1000A=	ENSP00000502681.1:p.Ile334=
ENST00000389266.7:c.1000A=	ENSP00000373918.3:p.Ile334=
ENST00000478124.5:n.1038A=
NM_001316772.1:c.838A=	NP_001303701.1:p.Ile280=
NM_002047.2:c.1000A= , LRG_243t1:c.1000A=	NP_002038.2:p.Ile334=
NM_002047.3:c.1000A=	NP_002038.2:p.Ile334=
XM_006715686.1:c.631A=	XP_006715749.1:p.Ile211=
XM_006715686.2:c.631A=	XP_006715749.1:p.Ile211=
NM_002047.4:c.1000A= MANE Select	NP_002038.2:p.Ile334=