Canonical Allele Identifier: CA2616355949
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093560-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093560C>A , CM000673.2:g.119093560C>A GRCh38
NC_000011.9:g.118964270C>A , CM000673.1:g.118964270C>A GRCh37
NC_000011.8:g.118469480C>A NCBI36
NG_008093.1:g.13684C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*277C>A ENSP00000509288.1:n.*277C>A
Search 100 bp 5'
Search 100 bp 3'