Canonical Allele Identifier: CA1099842433
Gene: GARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1791195319
gnomAD v3: 7-30594664-G-A
gnomAD v4: 7-30594664-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30594664G>A , CM000669.2:g.30594664G>A GRCh38
NC_000007.13:g.30634280G>A , CM000669.1:g.30634280G>A GRCh37
NC_000007.12:g.30600805G>A NCBI36
NG_007942.1:g.5100G>A , LRG_243:g.5100G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000675051.1:c.22-4132G>A ENSP00000502296.1:n.22-4132G>A
NM_002047.2:c.-258G>A , LRG_243t1:c.-258G>A NP_002038.2:n.-258G>A
Search 100 bp 5'
Search 100 bp 3'