Canonical Allele Identifier: CA1697807676

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609687T= , CM000669.2:g.30609687T=	GRCh38
NC_000007.13:g.30649303T= , CM000669.1:g.30649303T=	GRCh37
NC_000007.12:g.30615828T=	NCBI36
NG_007942.1:g.20123T= , LRG_243:g.20123T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.838T= MANE Select	ENSP00000373918.3:p.Leu280=
ENST00000444666.6:c.838T=	ENSP00000415447.2:p.Leu280=
ENST00000470392.2:n.928T=
ENST00000478124.6:n.901T=
ENST00000485784.2:n.917T=
ENST00000674616.1:c.*552T=	ENSP00000502408.1:n.*552T=
ENST00000674643.1:c.838T=	ENSP00000501636.1:p.Leu280=
ENST00000674734.1:n.1334T=
ENST00000674737.1:c.*176T=	ENSP00000502464.1:n.*176T=
ENST00000674807.1:c.838T=	ENSP00000502814.1:p.Leu280=
ENST00000674815.1:c.469T=	ENSP00000502799.1:p.Leu157=
ENST00000674851.1:c.469T=	ENSP00000502451.1:p.Leu157=
ENST00000674969.1:n.2711T=
ENST00000675051.1:c.637T=	ENSP00000502296.1:p.Leu213=
ENST00000675529.1:c.*708T=	ENSP00000501655.1:n.*708T=
ENST00000675587.1:n.854T=
ENST00000675651.1:c.838T=	ENSP00000502513.1:p.Leu280=
ENST00000675693.1:c.670T=	ENSP00000502174.1:p.Leu224=
ENST00000675810.1:c.736T=	ENSP00000502743.1:p.Leu246=
ENST00000675859.1:c.838T=	ENSP00000502033.1:p.Leu280=
ENST00000675863.1:n.846T=
ENST00000675886.1:n.6878T=
ENST00000676088.1:c.*780T=	ENSP00000501884.1:n.*780T=
ENST00000676140.1:c.838T=	ENSP00000502571.1:p.Leu280=
ENST00000676164.1:c.*289T=	ENSP00000501986.1:n.*289T=
ENST00000676210.1:c.*127T=	ENSP00000502373.1:n.*127T=
ENST00000676259.1:c.*270T=	ENSP00000501980.1:n.*270T=
ENST00000676403.1:c.838T=	ENSP00000502681.1:p.Leu280=
ENST00000389266.7:c.838T=	ENSP00000373918.3:p.Leu280=
ENST00000478124.5:n.876T=
NM_001316772.1:c.676T=	NP_001303701.1:p.Leu226=
NM_002047.2:c.838T= , LRG_243t1:c.838T=	NP_002038.2:p.Leu280=
NM_002047.3:c.838T=	NP_002038.2:p.Leu280=
XM_006715686.1:c.469T=	XP_006715749.1:p.Leu157=
XM_006715686.2:c.469T=	XP_006715749.1:p.Leu157=
NM_002047.4:c.838T= MANE Select	NP_002038.2:p.Leu280=