Canonical Allele Identifier: CA1697808089

Gene: GARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609706T= , CM000669.2:g.30609706T=	GRCh38
NC_000007.13:g.30649322T= , CM000669.1:g.30649322T=	GRCh37
NC_000007.12:g.30615847T=	NCBI36
NG_007942.1:g.20142T= , LRG_243:g.20142T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.857T= MANE Select	ENSP00000373918.3:p.Ile286=
ENST00000444666.6:c.857T=	ENSP00000415447.2:p.Ile286=
ENST00000470392.2:n.947T=
ENST00000478124.6:n.920T=
ENST00000485784.2:n.936T=
ENST00000674616.1:c.*571T=	ENSP00000502408.1:n.*571T=
ENST00000674643.1:c.857T=	ENSP00000501636.1:p.Ile286=
ENST00000674734.1:n.1353T=
ENST00000674737.1:c.*195T=	ENSP00000502464.1:n.*195T=
ENST00000674807.1:c.857T=	ENSP00000502814.1:p.Ile286=
ENST00000674815.1:c.488T=	ENSP00000502799.1:p.Ile163=
ENST00000674851.1:c.488T=	ENSP00000502451.1:p.Ile163=
ENST00000674969.1:n.2730T=
ENST00000675051.1:c.656T=	ENSP00000502296.1:p.Ile219=
ENST00000675529.1:c.*727T=	ENSP00000501655.1:n.*727T=
ENST00000675587.1:n.873T=
ENST00000675651.1:c.857T=	ENSP00000502513.1:p.Ile286=
ENST00000675693.1:c.689T=	ENSP00000502174.1:p.Ile230=
ENST00000675810.1:c.755T=	ENSP00000502743.1:p.Ile252=
ENST00000675859.1:c.857T=	ENSP00000502033.1:p.Ile286=
ENST00000675863.1:n.865T=
ENST00000675886.1:n.6897T=
ENST00000676088.1:c.*799T=	ENSP00000501884.1:n.*799T=
ENST00000676140.1:c.857T=	ENSP00000502571.1:p.Ile286=
ENST00000676164.1:c.*308T=	ENSP00000501986.1:n.*308T=
ENST00000676210.1:c.*146T=	ENSP00000502373.1:n.*146T=
ENST00000676259.1:c.*289T=	ENSP00000501980.1:n.*289T=
ENST00000676403.1:c.857T=	ENSP00000502681.1:p.Ile286=
ENST00000389266.7:c.857T=	ENSP00000373918.3:p.Ile286=
ENST00000478124.5:n.895T=
NM_001316772.1:c.695T=	NP_001303701.1:p.Ile232=
NM_002047.2:c.857T= , LRG_243t1:c.857T=	NP_002038.2:p.Ile286=
NM_002047.3:c.857T=	NP_002038.2:p.Ile286=
XM_006715686.1:c.488T=	XP_006715749.1:p.Ile163=
XM_006715686.2:c.488T=	XP_006715749.1:p.Ile163=
NM_002047.4:c.857T= MANE Select	NP_002038.2:p.Ile286=