Canonical Allele Identifier: CA2616355934
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093553G>T , CM000673.2:g.119093553G>T GRCh38
NC_000011.9:g.118964263G>T , CM000673.1:g.118964263G>T GRCh37
NC_000011.8:g.118469473G>T NCBI36
NG_008093.1:g.13677G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*270G>T ENSP00000509288.1:n.*270G>T