Canonical Allele Identifier: CA2003794167
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1946340808
gnomAD v4: 11-119093609-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093609T>G , CM000673.2:g.119093609T>G GRCh38
NC_000011.9:g.118964319T>G , CM000673.1:g.118964319T>G GRCh37
NC_000011.8:g.118469529T>G NCBI36
NG_008093.1:g.13733T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*326T>G ENSP00000509288.1:n.*326T>G
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Search 100 bp 3'