Canonical Allele Identifier: CA2003794181

Gene: HMBS

Linked Data

• dbSNP Id: rs640603
• gnomAD v4: 11-119093620-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093620G>C , CM000673.2:g.119093620G>C	GRCh38
NC_000011.9:g.118964330G>C , CM000673.1:g.118964330G>C	GRCh37
NC_000011.8:g.118469540G>C	NCBI36
NG_008093.1:g.13744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*337G>C	ENSP00000509288.1:n.*337G>C