Canonical Allele Identifier: CA1697807418

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609586T= , CM000669.2:g.30609586T=	GRCh38
NC_000007.13:g.30649202T= , CM000669.1:g.30649202T=	GRCh37
NC_000007.12:g.30615727T=	NCBI36
NG_007942.1:g.20022T= , LRG_243:g.20022T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.737T= MANE Select	ENSP00000373918.3:p.Leu246=
ENST00000444666.6:c.737T=	ENSP00000415447.2:p.Leu246=
ENST00000470392.2:n.827T=
ENST00000478124.6:n.800T=
ENST00000485784.2:n.816T=
ENST00000674616.1:c.*451T=	ENSP00000502408.1:n.*451T=
ENST00000674643.1:c.737T=	ENSP00000501636.1:p.Leu246=
ENST00000674734.1:n.1233T=
ENST00000674737.1:c.*75T=	ENSP00000502464.1:n.*75T=
ENST00000674807.1:c.737T=	ENSP00000502814.1:p.Leu246=
ENST00000674815.1:c.368T=	ENSP00000502799.1:p.Leu123=
ENST00000674851.1:c.368T=	ENSP00000502451.1:p.Leu123=
ENST00000674969.1:n.2610T=
ENST00000675051.1:c.536T=	ENSP00000502296.1:p.Leu179=
ENST00000675529.1:c.*607T=	ENSP00000501655.1:n.*607T=
ENST00000675587.1:n.753T=
ENST00000675651.1:c.737T=	ENSP00000502513.1:p.Leu246=
ENST00000675693.1:c.569T=	ENSP00000502174.1:p.Leu190=
ENST00000675810.1:c.635T=	ENSP00000502743.1:p.Leu212=
ENST00000675859.1:c.737T=	ENSP00000502033.1:p.Leu246=
ENST00000675863.1:n.745T=
ENST00000675886.1:n.6777T=
ENST00000676088.1:c.*679T=	ENSP00000501884.1:n.*679T=
ENST00000676140.1:c.737T=	ENSP00000502571.1:p.Leu246=
ENST00000676164.1:c.*188T=	ENSP00000501986.1:n.*188T=
ENST00000676210.1:c.*26T=	ENSP00000502373.1:n.*26T=
ENST00000676259.1:c.*169T=	ENSP00000501980.1:n.*169T=
ENST00000676403.1:c.737T=	ENSP00000502681.1:p.Leu246=
ENST00000389266.7:c.737T=	ENSP00000373918.3:p.Leu246=
ENST00000478124.5:n.775T=
NM_001316772.1:c.575T=	NP_001303701.1:p.Leu192=
NM_002047.2:c.737T= , LRG_243t1:c.737T=	NP_002038.2:p.Leu246=
NM_002047.3:c.737T=	NP_002038.2:p.Leu246=
XM_006715686.1:c.368T=	XP_006715749.1:p.Leu123=
XM_006715686.2:c.368T=	XP_006715749.1:p.Leu123=
NM_002047.4:c.737T= MANE Select	NP_002038.2:p.Leu246=