Canonical Allele Identifier: CA1697807633

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609653T= , CM000669.2:g.30609653T=	GRCh38
NC_000007.13:g.30649269T= , CM000669.1:g.30649269T=	GRCh37
NC_000007.12:g.30615794T=	NCBI36
NG_007942.1:g.20089T= , LRG_243:g.20089T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.804T= MANE Select	ENSP00000373918.3:p.Thr268=
ENST00000444666.6:c.804T=	ENSP00000415447.2:p.Thr268=
ENST00000470392.2:n.894T=
ENST00000478124.6:n.867T=
ENST00000485784.2:n.883T=
ENST00000674616.1:c.*518T=	ENSP00000502408.1:n.*518T=
ENST00000674643.1:c.804T=	ENSP00000501636.1:p.Thr268=
ENST00000674734.1:n.1300T=
ENST00000674737.1:c.*142T=	ENSP00000502464.1:n.*142T=
ENST00000674807.1:c.804T=	ENSP00000502814.1:p.Thr268=
ENST00000674815.1:c.435T=	ENSP00000502799.1:p.Thr145=
ENST00000674851.1:c.435T=	ENSP00000502451.1:p.Thr145=
ENST00000674969.1:n.2677T=
ENST00000675051.1:c.603T=	ENSP00000502296.1:p.Thr201=
ENST00000675529.1:c.*674T=	ENSP00000501655.1:n.*674T=
ENST00000675587.1:n.820T=
ENST00000675651.1:c.804T=	ENSP00000502513.1:p.Thr268=
ENST00000675693.1:c.636T=	ENSP00000502174.1:p.Thr212=
ENST00000675810.1:c.702T=	ENSP00000502743.1:p.Thr234=
ENST00000675859.1:c.804T=	ENSP00000502033.1:p.Thr268=
ENST00000675863.1:n.812T=
ENST00000675886.1:n.6844T=
ENST00000676088.1:c.*746T=	ENSP00000501884.1:n.*746T=
ENST00000676140.1:c.804T=	ENSP00000502571.1:p.Thr268=
ENST00000676164.1:c.*255T=	ENSP00000501986.1:n.*255T=
ENST00000676210.1:c.*93T=	ENSP00000502373.1:n.*93T=
ENST00000676259.1:c.*236T=	ENSP00000501980.1:n.*236T=
ENST00000676403.1:c.804T=	ENSP00000502681.1:p.Thr268=
ENST00000389266.7:c.804T=	ENSP00000373918.3:p.Thr268=
ENST00000478124.5:n.842T=
NM_001316772.1:c.642T=	NP_001303701.1:p.Thr214=
NM_002047.2:c.804T= , LRG_243t1:c.804T=	NP_002038.2:p.Thr268=
NM_002047.3:c.804T=	NP_002038.2:p.Thr268=
XM_006715686.1:c.435T=	XP_006715749.1:p.Thr145=
XM_006715686.2:c.435T=	XP_006715749.1:p.Thr145=
NM_002047.4:c.804T= MANE Select	NP_002038.2:p.Thr268=