Canonical Allele Identifier: CA2616356016

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093595-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093595A>C , CM000673.2:g.119093595A>C	GRCh38
NC_000011.9:g.118964305A>C , CM000673.1:g.118964305A>C	GRCh37
NC_000011.8:g.118469515A>C	NCBI36
NG_008093.1:g.13719A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*312A>C	ENSP00000509288.1:n.*312A>C