Canonical Allele Identifier: CA2616356089
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093630-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093630T>G , CM000673.2:g.119093630T>G GRCh38
NC_000011.9:g.118964340T>G , CM000673.1:g.118964340T>G GRCh37
NC_000011.8:g.118469550T>G NCBI36
NG_008093.1:g.13754T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*347T>G ENSP00000509288.1:n.*347T>G
Search 100 bp 5'
Search 100 bp 3'