Canonical Allele Identifier: CA2616356028

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093602-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093602T>C , CM000673.2:g.119093602T>C	GRCh38
NC_000011.9:g.118964312T>C , CM000673.1:g.118964312T>C	GRCh37
NC_000011.8:g.118469522T>C	NCBI36
NG_008093.1:g.13726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*319T>C	ENSP00000509288.1:n.*319T>C