Canonical Allele Identifier: CA4205736

Gene: GARS1

Linked Data

• ClinVar Variation Id: 431819
• ClinVar RCV Id: RCV000819577 ; RCV001159467 ; RCV001159466 ; RCV000513263 ; RCV001160833
• dbSNP Id: rs376772628
• ExAC: 7:30640809 G / A
• gnomAD v2: 7-30640809-G-A
• gnomAD v3: 7-30601193-G-A
• gnomAD v4: 7-30601193-G-A
• MyVariant Identifiers: chr7:g.30640809G>A (hg19) ; chr7:g.30601193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30601193G>A , CM000669.2:g.30601193G>A	GRCh38
NC_000007.13:g.30640809G>A , CM000669.1:g.30640809G>A	GRCh37
NC_000007.12:g.30607334G>A	NCBI36
NG_007942.1:g.11629G>A , LRG_243:g.11629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.562G>A MANE Select	ENSP00000373918.3:p.Val188Ile
ENST00000444666.6:c.562G>A	ENSP00000415447.2:p.Val188Ile
ENST00000454308.6:c.562G>A	ENSP00000392677.2:p.Val188Ile
ENST00000470392.2:n.652G>A
ENST00000478124.6:n.625G>A
ENST00000485784.2:n.641G>A
ENST00000674616.1:c.*276G>A	ENSP00000502408.1:n.*276G>A
ENST00000674643.1:c.562G>A	ENSP00000501636.1:p.Val188Ile
ENST00000674737.1:c.562G>A	ENSP00000502464.1:p.Val188Ile
ENST00000674807.1:c.562G>A	ENSP00000502814.1:p.Val188Ile
ENST00000674815.1:c.193G>A	ENSP00000502799.1:p.Val65Ile
ENST00000674851.1:c.193G>A	ENSP00000502451.1:p.Val65Ile
ENST00000674969.1:n.602G>A
ENST00000675025.1:n.478G>A
ENST00000675051.1:c.361G>A	ENSP00000502296.1:p.Val121Ile
ENST00000675529.1:c.*432G>A	ENSP00000501655.1:n.*432G>A
ENST00000675587.1:n.578G>A
ENST00000675651.1:c.562G>A	ENSP00000502513.1:p.Val188Ile
ENST00000675693.1:c.394G>A	ENSP00000502174.1:p.Val132Ile
ENST00000675810.1:c.460G>A	ENSP00000502743.1:p.Val154Ile
ENST00000675859.1:c.562G>A	ENSP00000502033.1:p.Val188Ile
ENST00000675863.1:n.570G>A
ENST00000675886.1:n.590G>A
ENST00000676088.1:c.*432G>A	ENSP00000501884.1:n.*432G>A
ENST00000676140.1:c.562G>A	ENSP00000502571.1:p.Val188Ile
ENST00000676164.1:c.562G>A	ENSP00000501986.1:p.Val188Ile
ENST00000676210.1:c.562G>A	ENSP00000502373.1:p.Val188Ile
ENST00000676259.1:c.492G>A	ENSP00000501980.1:p.Gln164=
ENST00000676403.1:c.562G>A	ENSP00000502681.1:p.Val188Ile
ENST00000389266.7:c.562G>A	ENSP00000373918.3:p.Val188Ile
ENST00000454308.5:c.*432G>A	ENSP00000392677.1:n.*432G>A
ENST00000478124.5:n.600G>A
NM_001316772.1:c.400G>A	NP_001303701.1:p.Val134Ile
NM_002047.2:c.562G>A , LRG_243t1:c.562G>A	NP_002038.2:p.Val188Ile
NM_002047.3:c.562G>A	NP_002038.2:p.Val188Ile
XM_006715686.1:c.193G>A	XP_006715749.1:p.Val65Ile
XM_006715686.2:c.193G>A	XP_006715749.1:p.Val65Ile
NM_002047.4:c.562G>A MANE Select	NP_002038.2:p.Val188Ile