Canonical Allele Identifier: CA942780749
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1946340867
gnomAD v3: 11-119093613-C-T
gnomAD v4: 11-119093613-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093613C>T , CM000673.2:g.119093613C>T GRCh38
NC_000011.9:g.118964323C>T , CM000673.1:g.118964323C>T GRCh37
NC_000011.8:g.118469533C>T NCBI36
NG_008093.1:g.13737C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*330C>T ENSP00000509288.1:n.*330C>T
Search 100 bp 5'
Search 100 bp 3'