Canonical Allele Identifier: CA10623829
Gene: GARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359992
dbSNP Id: rs148593022
gnomAD v2: 7-30634313-G-A
gnomAD v3: 7-30594697-G-A
gnomAD v4: 7-30594697-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594697G>A , CM000669.2:g.30594697G>A GRCh38
NC_000007.13:g.30634313G>A , CM000669.1:g.30634313G>A GRCh37
NC_000007.12:g.30600838G>A NCBI36
NG_007942.1:g.5133G>A , LRG_243:g.5133G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000675051.1:c.22-4099G>A ENSP00000502296.1:n.22-4099G>A
ENST00000389266.7:c.-225G>A ENSP00000373918.3:n.-225G>A
NM_002047.2:c.-225G>A , LRG_243t1:c.-225G>A NP_002038.2:n.-225G>A