Canonical Allele Identifier: CA2003794124
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs756502371
gnomAD v4: 11-119093579-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093579G>A , CM000673.2:g.119093579G>A GRCh38
NC_000011.9:g.118964289G>A , CM000673.1:g.118964289G>A GRCh37
NC_000011.8:g.118469499G>A NCBI36
NG_008093.1:g.13703G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*296G>A ENSP00000509288.1:n.*296G>A
Search 100 bp 5'
Search 100 bp 3'