Canonical Allele Identifier: CA2003794248
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1946342278
gnomAD v4: 11-119093650-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093650A>T , CM000673.2:g.119093650A>T GRCh38
NC_000011.9:g.118964360A>T , CM000673.1:g.118964360A>T GRCh37
NC_000011.8:g.118469570A>T NCBI36
NG_008093.1:g.13774A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*367A>T ENSP00000509288.1:n.*367A>T
Search 100 bp 5'
Search 100 bp 3'