Canonical Allele Identifier: CA1697807664

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609675G= , CM000669.2:g.30609675G=	GRCh38
NC_000007.13:g.30649291G= , CM000669.1:g.30649291G=	GRCh37
NC_000007.12:g.30615816G=	NCBI36
NG_007942.1:g.20111G= , LRG_243:g.20111G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.826G= MANE Select	ENSP00000373918.3:p.Val276=
ENST00000444666.6:c.826G=	ENSP00000415447.2:p.Val276=
ENST00000470392.2:n.916G=
ENST00000478124.6:n.889G=
ENST00000485784.2:n.905G=
ENST00000674616.1:c.*540G=	ENSP00000502408.1:n.*540G=
ENST00000674643.1:c.826G=	ENSP00000501636.1:p.Val276=
ENST00000674734.1:n.1322G=
ENST00000674737.1:c.*164G=	ENSP00000502464.1:n.*164G=
ENST00000674807.1:c.826G=	ENSP00000502814.1:p.Val276=
ENST00000674815.1:c.457G=	ENSP00000502799.1:p.Val153=
ENST00000674851.1:c.457G=	ENSP00000502451.1:p.Val153=
ENST00000674969.1:n.2699G=
ENST00000675051.1:c.625G=	ENSP00000502296.1:p.Val209=
ENST00000675529.1:c.*696G=	ENSP00000501655.1:n.*696G=
ENST00000675587.1:n.842G=
ENST00000675651.1:c.826G=	ENSP00000502513.1:p.Val276=
ENST00000675693.1:c.658G=	ENSP00000502174.1:p.Val220=
ENST00000675810.1:c.724G=	ENSP00000502743.1:p.Val242=
ENST00000675859.1:c.826G=	ENSP00000502033.1:p.Val276=
ENST00000675863.1:n.834G=
ENST00000675886.1:n.6866G=
ENST00000676088.1:c.*768G=	ENSP00000501884.1:n.*768G=
ENST00000676140.1:c.826G=	ENSP00000502571.1:p.Val276=
ENST00000676164.1:c.*277G=	ENSP00000501986.1:n.*277G=
ENST00000676210.1:c.*115G=	ENSP00000502373.1:n.*115G=
ENST00000676259.1:c.*258G=	ENSP00000501980.1:n.*258G=
ENST00000676403.1:c.826G=	ENSP00000502681.1:p.Val276=
ENST00000389266.7:c.826G=	ENSP00000373918.3:p.Val276=
ENST00000478124.5:n.864G=
NM_001316772.1:c.664G=	NP_001303701.1:p.Val222=
NM_002047.2:c.826G= , LRG_243t1:c.826G=	NP_002038.2:p.Val276=
NM_002047.3:c.826G=	NP_002038.2:p.Val276=
XM_006715686.1:c.457G=	XP_006715749.1:p.Val153=
XM_006715686.2:c.457G=	XP_006715749.1:p.Val153=
NM_002047.4:c.826G= MANE Select	NP_002038.2:p.Val276=