Canonical Allele Identifier: CA2682248308
Gene: GARS1 HGNC NCBI

Linked Data

gnomAD v4: 7-30594664-G-T
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000675051.1:c.22-4132G>T ENSP00000502296.1:n.22-4132G>T
NM_002047.2:c.-258G>T , LRG_243t1:c.-258G>T NP_002038.2:n.-258G>T
Search 100 bp 5'
Search 100 bp 3'