Canonical Allele Identifier: CA10628956
Gene: GARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359998
dbSNP Id: rs527307703
gnomAD v2: 7-30634469-T-A
gnomAD v3: 7-30594853-T-A
gnomAD v4: 7-30594853-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594853T>A , CM000669.2:g.30594853T>A GRCh38
NC_000007.13:g.30634469T>A , CM000669.1:g.30634469T>A GRCh37
NC_000007.12:g.30600994T>A NCBI36
NG_007942.1:g.5289T>A , LRG_243:g.5289T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470392.2:n.22T>A
ENST00000485784.2:n.11T>A
ENST00000674643.1:c.-69T>A ENSP00000501636.1:n.-69T>A
ENST00000674807.1:c.-69T>A ENSP00000502814.1:n.-69T>A
ENST00000674815.1:c.-247T>A ENSP00000502799.1:n.-247T>A
ENST00000675051.1:c.22-3943T>A ENSP00000502296.1:n.22-3943T>A
ENST00000675529.1:c.-69T>A ENSP00000501655.1:n.-69T>A
ENST00000675810.1:c.-69T>A ENSP00000502743.1:n.-69T>A
ENST00000676088.1:c.-69T>A ENSP00000501884.1:n.-69T>A
ENST00000676210.1:c.-69T>A ENSP00000502373.1:n.-69T>A
ENST00000676403.1:c.-69T>A ENSP00000502681.1:n.-69T>A
ENST00000389266.7:c.-69T>A ENSP00000373918.3:n.-69T>A
ENST00000454308.5:c.-69T>A ENSP00000392677.1:n.-69T>A
ENST00000627489.1:c.-69T>A ENSP00000485931.1:n.-69T>A
NM_001316772.1:c.-231T>A NP_001303701.1:n.-231T>A
NM_002047.2:c.-69T>A , LRG_243t1:c.-69T>A NP_002038.2:n.-69T>A
XM_006715686.2:c.-548T>A XP_006715749.1:n.-548T>A