Canonical Allele Identifier: CA2003794110
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093569T= , CM000673.2:g.119093569T= GRCh38
NC_000011.9:g.118964279T= , CM000673.1:g.118964279T= GRCh37
NC_000011.8:g.118469489T= NCBI36
NG_008093.1:g.13693T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*286T= ENSP00000509288.1:n.*286T=