Canonical Allele Identifier: CA2616356039
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093607-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093607C>A , CM000673.2:g.119093607C>A GRCh38
NC_000011.9:g.118964317C>A , CM000673.1:g.118964317C>A GRCh37
NC_000011.8:g.118469527C>A NCBI36
NG_008093.1:g.13731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*324C>A ENSP00000509288.1:n.*324C>A
Search 100 bp 5'
Search 100 bp 3'