Canonical Allele Identifier: CA1697807660

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609672C= , CM000669.2:g.30609672C=	GRCh38
NC_000007.13:g.30649288C= , CM000669.1:g.30649288C=	GRCh37
NC_000007.12:g.30615813C=	NCBI36
NG_007942.1:g.20108C= , LRG_243:g.20108C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.823C= MANE Select	ENSP00000373918.3:p.Pro275=
ENST00000444666.6:c.823C=	ENSP00000415447.2:p.Pro275=
ENST00000470392.2:n.913C=
ENST00000478124.6:n.886C=
ENST00000485784.2:n.902C=
ENST00000674616.1:c.*537C=	ENSP00000502408.1:n.*537C=
ENST00000674643.1:c.823C=	ENSP00000501636.1:p.Pro275=
ENST00000674734.1:n.1319C=
ENST00000674737.1:c.*161C=	ENSP00000502464.1:n.*161C=
ENST00000674807.1:c.823C=	ENSP00000502814.1:p.Pro275=
ENST00000674815.1:c.454C=	ENSP00000502799.1:p.Pro152=
ENST00000674851.1:c.454C=	ENSP00000502451.1:p.Pro152=
ENST00000674969.1:n.2696C=
ENST00000675051.1:c.622C=	ENSP00000502296.1:p.Pro208=
ENST00000675529.1:c.*693C=	ENSP00000501655.1:n.*693C=
ENST00000675587.1:n.839C=
ENST00000675651.1:c.823C=	ENSP00000502513.1:p.Pro275=
ENST00000675693.1:c.655C=	ENSP00000502174.1:p.Pro219=
ENST00000675810.1:c.721C=	ENSP00000502743.1:p.Pro241=
ENST00000675859.1:c.823C=	ENSP00000502033.1:p.Pro275=
ENST00000675863.1:n.831C=
ENST00000675886.1:n.6863C=
ENST00000676088.1:c.*765C=	ENSP00000501884.1:n.*765C=
ENST00000676140.1:c.823C=	ENSP00000502571.1:p.Pro275=
ENST00000676164.1:c.*274C=	ENSP00000501986.1:n.*274C=
ENST00000676210.1:c.*112C=	ENSP00000502373.1:n.*112C=
ENST00000676259.1:c.*255C=	ENSP00000501980.1:n.*255C=
ENST00000676403.1:c.823C=	ENSP00000502681.1:p.Pro275=
ENST00000389266.7:c.823C=	ENSP00000373918.3:p.Pro275=
ENST00000478124.5:n.861C=
NM_001316772.1:c.661C=	NP_001303701.1:p.Pro221=
NM_002047.2:c.823C= , LRG_243t1:c.823C=	NP_002038.2:p.Pro275=
NM_002047.3:c.823C=	NP_002038.2:p.Pro275=
XM_006715686.1:c.454C=	XP_006715749.1:p.Pro152=
XM_006715686.2:c.454C=	XP_006715749.1:p.Pro152=
NM_002047.4:c.823C= MANE Select	NP_002038.2:p.Pro275=