Canonical Allele Identifier: CA367125110

Gene: GARS1

Linked Data

• dbSNP Id: rs1168927898
• gnomAD v2: 7-30651797-G-A
• gnomAD v4: 7-30612181-G-A
• MyVariant Identifiers: chr7:g.30651797G>A (hg19) ; chr7:g.30612181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612181G>A , CM000669.2:g.30612181G>A	GRCh38
NC_000007.13:g.30651797G>A , CM000669.1:g.30651797G>A	GRCh37
NC_000007.12:g.30618322G>A	NCBI36
NG_007942.1:g.22617G>A , LRG_243:g.22617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.967G>A MANE Select	ENSP00000373918.3:p.Ala323Thr
ENST00000444666.6:c.967G>A	ENSP00000415447.2:p.Ala323Thr
ENST00000470392.2:n.1057G>A
ENST00000478124.6:n.1030G>A
ENST00000485784.2:n.1046G>A
ENST00000674616.1:c.*681G>A	ENSP00000502408.1:n.*681G>A
ENST00000674643.1:c.967G>A	ENSP00000501636.1:p.Ala323Thr
ENST00000674734.1:n.1463G>A
ENST00000674737.1:c.*305G>A	ENSP00000502464.1:n.*305G>A
ENST00000674807.1:c.967G>A	ENSP00000502814.1:p.Ala323Thr
ENST00000674815.1:c.598G>A	ENSP00000502799.1:p.Ala200Thr
ENST00000674851.1:c.598G>A	ENSP00000502451.1:p.Ala200Thr
ENST00000674969.1:n.2840G>A
ENST00000675051.1:c.766G>A	ENSP00000502296.1:p.Ala256Thr
ENST00000675529.1:c.*837G>A	ENSP00000501655.1:n.*837G>A
ENST00000675587.1:n.983G>A
ENST00000675651.1:c.967G>A	ENSP00000502513.1:p.Ala323Thr
ENST00000675693.1:c.799G>A	ENSP00000502174.1:p.Ala267Thr
ENST00000675810.1:c.865G>A	ENSP00000502743.1:p.Ala289Thr
ENST00000675859.1:c.967G>A	ENSP00000502033.1:p.Ala323Thr
ENST00000675863.1:n.975G>A
ENST00000675886.1:n.7007G>A
ENST00000676088.1:c.*909G>A	ENSP00000501884.1:n.*909G>A
ENST00000676140.1:c.967G>A	ENSP00000502571.1:p.Ala323Thr
ENST00000676164.1:c.*418G>A	ENSP00000501986.1:n.*418G>A
ENST00000676210.1:c.*256G>A	ENSP00000502373.1:n.*256G>A
ENST00000676259.1:c.*399G>A	ENSP00000501980.1:n.*399G>A
ENST00000676403.1:c.967G>A	ENSP00000502681.1:p.Ala323Thr
ENST00000389266.7:c.967G>A	ENSP00000373918.3:p.Ala323Thr
ENST00000478124.5:n.1005G>A
NM_001316772.1:c.805G>A	NP_001303701.1:p.Ala269Thr
NM_002047.2:c.967G>A , LRG_243t1:c.967G>A	NP_002038.2:p.Ala323Thr
NM_002047.3:c.967G>A	NP_002038.2:p.Ala323Thr
XM_006715686.1:c.598G>A	XP_006715749.1:p.Ala200Thr
XM_006715686.2:c.598G>A	XP_006715749.1:p.Ala200Thr
NM_002047.4:c.967G>A MANE Select	NP_002038.2:p.Ala323Thr