Canonical Allele Identifier: CA2616352342
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119084867A>G , CM000673.2:g.119084867A>G GRCh38
NC_000011.9:g.118955577A>G , CM000673.1:g.118955577A>G GRCh37
NC_000011.8:g.118460787A>G NCBI36
NG_008093.1:g.4991A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000536185.5:n.2A>G
XM_024448460.1:c.-167A>G XP_024304228.1:n.-167A>G