Canonical Allele Identifier: CA367138725

Gene: GARS1

Linked Data

• gnomAD v4: 7-30595114-G-A
• COSMIC: COSM6395082
• MyVariant Identifiers: chr7:g.30634730G>A (hg19) ; chr7:g.30595114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30595114G>A , CM000669.2:g.30595114G>A	GRCh38
NC_000007.13:g.30634730G>A , CM000669.1:g.30634730G>A	GRCh37
NC_000007.12:g.30601255G>A	NCBI36
NG_007942.1:g.5550G>A , LRG_243:g.5550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.193G>A MANE Select	ENSP00000373918.3:p.Ala65Thr
ENST00000444666.6:c.193G>A	ENSP00000415447.2:p.Ala65Thr
ENST00000454308.6:c.193G>A	ENSP00000392677.2:p.Ala65Thr
ENST00000470392.2:n.283G>A
ENST00000478124.6:n.256G>A
ENST00000485784.2:n.272G>A
ENST00000674616.1:c.193G>A	ENSP00000502408.1:p.Ala65Thr
ENST00000674643.1:c.193G>A	ENSP00000501636.1:p.Ala65Thr
ENST00000674737.1:c.193G>A	ENSP00000502464.1:p.Ala65Thr
ENST00000674807.1:c.193G>A	ENSP00000502814.1:p.Ala65Thr
ENST00000674815.1:c.-148+162G>A	ENSP00000502799.1:n.-148+162G>A
ENST00000674851.1:c.-177G>A	ENSP00000502451.1:n.-177G>A
ENST00000674969.1:n.233G>A
ENST00000675051.1:c.22-3682G>A	ENSP00000502296.1:n.22-3682G>A
ENST00000675529.1:c.193G>A	ENSP00000501655.1:p.Ala65Thr
ENST00000675587.1:n.209G>A
ENST00000675651.1:c.193G>A	ENSP00000502513.1:p.Ala65Thr
ENST00000675693.1:c.25G>A	ENSP00000502174.1:p.Ala9Thr
ENST00000675810.1:c.193G>A	ENSP00000502743.1:p.Ala65Thr
ENST00000675859.1:c.193G>A	ENSP00000502033.1:p.Ala65Thr
ENST00000675863.1:n.201G>A
ENST00000675886.1:n.221G>A
ENST00000676088.1:c.193G>A	ENSP00000501884.1:p.Ala65Thr
ENST00000676140.1:c.193G>A	ENSP00000502571.1:p.Ala65Thr
ENST00000676164.1:c.193G>A	ENSP00000501986.1:p.Ala65Thr
ENST00000676210.1:c.193G>A	ENSP00000502373.1:p.Ala65Thr
ENST00000676259.1:c.193G>A	ENSP00000501980.1:p.Ala65Thr
ENST00000676403.1:c.193G>A	ENSP00000502681.1:p.Ala65Thr
ENST00000389266.7:c.193G>A	ENSP00000373918.3:p.Ala65Thr
ENST00000454308.5:c.193G>A	ENSP00000392677.1:p.Ala65Thr
ENST00000478124.5:n.231G>A
ENST00000627489.1:c.193G>A	ENSP00000485931.1:p.Ala65Thr
NM_001316772.1:c.31G>A	NP_001303701.1:p.Ala11Thr
NM_002047.2:c.193G>A , LRG_243t1:c.193G>A	NP_002038.2:p.Ala65Thr
NM_002047.3:c.193G>A	NP_002038.2:p.Ala65Thr
XM_006715686.2:c.-287G>A	XP_006715749.1:n.-287G>A
NM_002047.4:c.193G>A MANE Select	NP_002038.2:p.Ala65Thr