Canonical Allele Identifier: CA2616356052
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093614-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093614T>A , CM000673.2:g.119093614T>A GRCh38
NC_000011.9:g.118964324T>A , CM000673.1:g.118964324T>A GRCh37
NC_000011.8:g.118469534T>A NCBI36
NG_008093.1:g.13738T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*331T>A ENSP00000509288.1:n.*331T>A
Search 100 bp 5'
Search 100 bp 3'