Canonical Allele Identifier: CA2616356024
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093600-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093600C>T , CM000673.2:g.119093600C>T GRCh38
NC_000011.9:g.118964310C>T , CM000673.1:g.118964310C>T GRCh37
NC_000011.8:g.118469520C>T NCBI36
NG_008093.1:g.13724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*317C>T ENSP00000509288.1:n.*317C>T
Search 100 bp 5'
Search 100 bp 3'