Canonical Allele Identifier: CA942780738
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs767798009
gnomAD v3: 11-119093561-G-T
gnomAD v4: 11-119093561-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093561G>T , CM000673.2:g.119093561G>T GRCh38
NC_000011.9:g.118964271G>T , CM000673.1:g.118964271G>T GRCh37
NC_000011.8:g.118469481G>T NCBI36
NG_008093.1:g.13685G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*278G>T ENSP00000509288.1:n.*278G>T
Search 100 bp 5'
Search 100 bp 3'