Canonical Allele Identifier: CA602168941
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1413853952
gnomAD v2: 11-118964303-C-G
gnomAD v3: 11-119093593-C-G
gnomAD v4: 11-119093593-C-G
MyVariant Identifiers: chr11:g.118964303C>G (hg19) chr11:g.119093593C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093593C>G , CM000673.2:g.119093593C>G GRCh38
NC_000011.9:g.118964303C>G , CM000673.1:g.118964303C>G GRCh37
NC_000011.8:g.118469513C>G NCBI36
NG_008093.1:g.13717C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*310C>G ENSP00000509288.1:n.*310C>G
Search 100 bp 5'
Search 100 bp 3'