Canonical Allele Identifier: CA602168946
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1199278931

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093652G>A , CM000673.2:g.119093652G>A GRCh38
NC_000011.9:g.118964362G>A , CM000673.1:g.118964362G>A GRCh37
NC_000011.8:g.118469572G>A NCBI36
NG_008093.1:g.13776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*369G>A ENSP00000509288.1:n.*369G>A