Canonical Allele Identifier: CA2616356051

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093614-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093614T>C , CM000673.2:g.119093614T>C	GRCh38
NC_000011.9:g.118964324T>C , CM000673.1:g.118964324T>C	GRCh37
NC_000011.8:g.118469534T>C	NCBI36
NG_008093.1:g.13738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*331T>C	ENSP00000509288.1:n.*331T>C