Canonical Allele Identifier: CA2003794243
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093648G= , CM000673.2:g.119093648G= GRCh38
NC_000011.9:g.118964358G= , CM000673.1:g.118964358G= GRCh37
NC_000011.8:g.118469568G= NCBI36
NG_008093.1:g.13772G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*365G= ENSP00000509288.1:n.*365G=