Canonical Allele Identifier: CA2616355930
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093551G>C , CM000673.2:g.119093551G>C GRCh38
NC_000011.9:g.118964261G>C , CM000673.1:g.118964261G>C GRCh37
NC_000011.8:g.118469471G>C NCBI36
NG_008093.1:g.13675G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*268G>C ENSP00000509288.1:n.*268G>C