Canonical Allele Identifier: CA2003794163

Gene: HMBS

Linked Data

• dbSNP Id: rs1592222234
• gnomAD v4: 11-119093605-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093605A>C , CM000673.2:g.119093605A>C	GRCh38
NC_000011.9:g.118964315A>C , CM000673.1:g.118964315A>C	GRCh37
NC_000011.8:g.118469525A>C	NCBI36
NG_008093.1:g.13729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*322A>C	ENSP00000509288.1:n.*322A>C