Canonical Allele Identifier: CA229597889

Gene: HMBS

Linked Data

• dbSNP Id: rs796661654
• MyVariant Identifiers: chr11:g.118964348A>G (hg19) ; chr11:g.119093638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093638A>G , CM000673.2:g.119093638A>G	GRCh38
NC_000011.9:g.118964348A>G , CM000673.1:g.118964348A>G	GRCh37
NC_000011.8:g.118469558A>G	NCBI36
NG_008093.1:g.13762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*355A>G	ENSP00000509288.1:n.*355A>G