Canonical Allele Identifier: CA2003794111
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1946339564
gnomAD v4: 11-119093569-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093569T>C , CM000673.2:g.119093569T>C GRCh38
NC_000011.9:g.118964279T>C , CM000673.1:g.118964279T>C GRCh37
NC_000011.8:g.118469489T>C NCBI36
NG_008093.1:g.13693T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*286T>C ENSP00000509288.1:n.*286T>C
Search 100 bp 5'
Search 100 bp 3'