Canonical Allele Identifier: CA2616356055

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093618-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093618A>C , CM000673.2:g.119093618A>C	GRCh38
NC_000011.9:g.118964328A>C , CM000673.1:g.118964328A>C	GRCh37
NC_000011.8:g.118469538A>C	NCBI36
NG_008093.1:g.13742A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*335A>C	ENSP00000509288.1:n.*335A>C