Canonical Allele Identifier: CA2003794140
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093587C= , CM000673.2:g.119093587C= GRCh38
NC_000011.9:g.118964297C= , CM000673.1:g.118964297C= GRCh37
NC_000011.8:g.118469507C= NCBI36
NG_008093.1:g.13711C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*304C= ENSP00000509288.1:n.*304C=