Canonical Allele Identifier: CA1697807621

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609650T= , CM000669.2:g.30609650T=	GRCh38
NC_000007.13:g.30649266T= , CM000669.1:g.30649266T=	GRCh37
NC_000007.12:g.30615791T=	NCBI36
NG_007942.1:g.20086T= , LRG_243:g.20086T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.801T= MANE Select	ENSP00000373918.3:p.Ile267=
ENST00000444666.6:c.801T=	ENSP00000415447.2:p.Ile267=
ENST00000470392.2:n.891T=
ENST00000478124.6:n.864T=
ENST00000485784.2:n.880T=
ENST00000674616.1:c.*515T=	ENSP00000502408.1:n.*515T=
ENST00000674643.1:c.801T=	ENSP00000501636.1:p.Ile267=
ENST00000674734.1:n.1297T=
ENST00000674737.1:c.*139T=	ENSP00000502464.1:n.*139T=
ENST00000674807.1:c.801T=	ENSP00000502814.1:p.Ile267=
ENST00000674815.1:c.432T=	ENSP00000502799.1:p.Ile144=
ENST00000674851.1:c.432T=	ENSP00000502451.1:p.Ile144=
ENST00000674969.1:n.2674T=
ENST00000675051.1:c.600T=	ENSP00000502296.1:p.Ile200=
ENST00000675529.1:c.*671T=	ENSP00000501655.1:n.*671T=
ENST00000675587.1:n.817T=
ENST00000675651.1:c.801T=	ENSP00000502513.1:p.Ile267=
ENST00000675693.1:c.633T=	ENSP00000502174.1:p.Ile211=
ENST00000675810.1:c.699T=	ENSP00000502743.1:p.Ile233=
ENST00000675859.1:c.801T=	ENSP00000502033.1:p.Ile267=
ENST00000675863.1:n.809T=
ENST00000675886.1:n.6841T=
ENST00000676088.1:c.*743T=	ENSP00000501884.1:n.*743T=
ENST00000676140.1:c.801T=	ENSP00000502571.1:p.Ile267=
ENST00000676164.1:c.*252T=	ENSP00000501986.1:n.*252T=
ENST00000676210.1:c.*90T=	ENSP00000502373.1:n.*90T=
ENST00000676259.1:c.*233T=	ENSP00000501980.1:n.*233T=
ENST00000676403.1:c.801T=	ENSP00000502681.1:p.Ile267=
ENST00000389266.7:c.801T=	ENSP00000373918.3:p.Ile267=
ENST00000478124.5:n.839T=
NM_001316772.1:c.639T=	NP_001303701.1:p.Ile213=
NM_002047.2:c.801T= , LRG_243t1:c.801T=	NP_002038.2:p.Ile267=
NM_002047.3:c.801T=	NP_002038.2:p.Ile267=
XM_006715686.1:c.432T=	XP_006715749.1:p.Ile144=
XM_006715686.2:c.432T=	XP_006715749.1:p.Ile144=
NM_002047.4:c.801T= MANE Select	NP_002038.2:p.Ile267=