Canonical Allele Identifier: CA4205834

Gene: GARS1

Linked Data

• dbSNP Id: rs200760866
• ExAC: 7:30649293 G / A
• gnomAD v2: 7-30649293-G-A
• gnomAD v3: 7-30609677-G-A
• gnomAD v4: 7-30609677-G-A
• MyVariant Identifiers: chr7:g.30649293G>A (hg19) ; chr7:g.30609677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609677G>A , CM000669.2:g.30609677G>A	GRCh38
NC_000007.13:g.30649293G>A , CM000669.1:g.30649293G>A	GRCh37
NC_000007.12:g.30615818G>A	NCBI36
NG_007942.1:g.20113G>A , LRG_243:g.20113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.828G>A MANE Select	ENSP00000373918.3:p.Val276=
ENST00000444666.6:c.828G>A	ENSP00000415447.2:p.Val276=
ENST00000470392.2:n.918G>A
ENST00000478124.6:n.891G>A
ENST00000485784.2:n.907G>A
ENST00000674616.1:c.*542G>A	ENSP00000502408.1:n.*542G>A
ENST00000674643.1:c.828G>A	ENSP00000501636.1:p.Val276=
ENST00000674734.1:n.1324G>A
ENST00000674737.1:c.*166G>A	ENSP00000502464.1:n.*166G>A
ENST00000674807.1:c.828G>A	ENSP00000502814.1:p.Val276=
ENST00000674815.1:c.459G>A	ENSP00000502799.1:p.Val153=
ENST00000674851.1:c.459G>A	ENSP00000502451.1:p.Val153=
ENST00000674969.1:n.2701G>A
ENST00000675051.1:c.627G>A	ENSP00000502296.1:p.Val209=
ENST00000675529.1:c.*698G>A	ENSP00000501655.1:n.*698G>A
ENST00000675587.1:n.844G>A
ENST00000675651.1:c.828G>A	ENSP00000502513.1:p.Val276=
ENST00000675693.1:c.660G>A	ENSP00000502174.1:p.Val220=
ENST00000675810.1:c.726G>A	ENSP00000502743.1:p.Val242=
ENST00000675859.1:c.828G>A	ENSP00000502033.1:p.Val276=
ENST00000675863.1:n.836G>A
ENST00000675886.1:n.6868G>A
ENST00000676088.1:c.*770G>A	ENSP00000501884.1:n.*770G>A
ENST00000676140.1:c.828G>A	ENSP00000502571.1:p.Val276=
ENST00000676164.1:c.*279G>A	ENSP00000501986.1:n.*279G>A
ENST00000676210.1:c.*117G>A	ENSP00000502373.1:n.*117G>A
ENST00000676259.1:c.*260G>A	ENSP00000501980.1:n.*260G>A
ENST00000676403.1:c.828G>A	ENSP00000502681.1:p.Val276=
ENST00000389266.7:c.828G>A	ENSP00000373918.3:p.Val276=
ENST00000478124.5:n.866G>A
NM_001316772.1:c.666G>A	NP_001303701.1:p.Val222=
NM_002047.2:c.828G>A , LRG_243t1:c.828G>A	NP_002038.2:p.Val276=
NM_002047.3:c.828G>A	NP_002038.2:p.Val276=
XM_006715686.1:c.459G>A	XP_006715749.1:p.Val153=
XM_006715686.2:c.459G>A	XP_006715749.1:p.Val153=
NM_002047.4:c.828G>A MANE Select	NP_002038.2:p.Val276=