Canonical Allele Identifier: CA672379127
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1281215496

Genomic Alleles

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

Transcript Alleles

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