Canonical Allele Identifier: CA2003794149
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093599C= , CM000673.2:g.119093599C= GRCh38
NC_000011.9:g.118964309C= , CM000673.1:g.118964309C= GRCh37
NC_000011.8:g.118469519C= NCBI36
NG_008093.1:g.13723C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*316C= ENSP00000509288.1:n.*316C=