Canonical Allele Identifier: CA1697808125

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609724T= , CM000669.2:g.30609724T=	GRCh38
NC_000007.13:g.30649340T= , CM000669.1:g.30649340T=	GRCh37
NC_000007.12:g.30615865T=	NCBI36
NG_007942.1:g.20160T= , LRG_243:g.20160T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.875T= MANE Select	ENSP00000373918.3:p.Met292=
ENST00000444666.6:c.875T=	ENSP00000415447.2:p.Met292=
ENST00000470392.2:n.965T=
ENST00000478124.6:n.938T=
ENST00000485784.2:n.954T=
ENST00000674616.1:c.*589T=	ENSP00000502408.1:n.*589T=
ENST00000674643.1:c.875T=	ENSP00000501636.1:p.Met292=
ENST00000674734.1:n.1371T=
ENST00000674737.1:c.*213T=	ENSP00000502464.1:n.*213T=
ENST00000674807.1:c.875T=	ENSP00000502814.1:p.Met292=
ENST00000674815.1:c.506T=	ENSP00000502799.1:p.Met169=
ENST00000674851.1:c.506T=	ENSP00000502451.1:p.Met169=
ENST00000674969.1:n.2748T=
ENST00000675051.1:c.674T=	ENSP00000502296.1:p.Met225=
ENST00000675529.1:c.*745T=	ENSP00000501655.1:n.*745T=
ENST00000675587.1:n.891T=
ENST00000675651.1:c.875T=	ENSP00000502513.1:p.Met292=
ENST00000675693.1:c.707T=	ENSP00000502174.1:p.Met236=
ENST00000675810.1:c.773T=	ENSP00000502743.1:p.Met258=
ENST00000675859.1:c.875T=	ENSP00000502033.1:p.Met292=
ENST00000675863.1:n.883T=
ENST00000675886.1:n.6915T=
ENST00000676088.1:c.*817T=	ENSP00000501884.1:n.*817T=
ENST00000676140.1:c.875T=	ENSP00000502571.1:p.Met292=
ENST00000676164.1:c.*326T=	ENSP00000501986.1:n.*326T=
ENST00000676210.1:c.*164T=	ENSP00000502373.1:n.*164T=
ENST00000676259.1:c.*307T=	ENSP00000501980.1:n.*307T=
ENST00000676403.1:c.875T=	ENSP00000502681.1:p.Met292=
ENST00000389266.7:c.875T=	ENSP00000373918.3:p.Met292=
ENST00000478124.5:n.913T=
NM_001316772.1:c.713T=	NP_001303701.1:p.Met238=
NM_002047.2:c.875T= , LRG_243t1:c.875T=	NP_002038.2:p.Met292=
NM_002047.3:c.875T=	NP_002038.2:p.Met292=
XM_006715686.1:c.506T=	XP_006715749.1:p.Met169=
XM_006715686.2:c.506T=	XP_006715749.1:p.Met169=
NM_002047.4:c.875T= MANE Select	NP_002038.2:p.Met292=