Canonical Allele Identifier: CA2616356049
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093612-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093612C>G , CM000673.2:g.119093612C>G GRCh38
NC_000011.9:g.118964322C>G , CM000673.1:g.118964322C>G GRCh37
NC_000011.8:g.118469532C>G NCBI36
NG_008093.1:g.13736C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*329C>G ENSP00000509288.1:n.*329C>G
Search 100 bp 5'
Search 100 bp 3'