Canonical Allele Identifier: CA672379089
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1199982485
gnomAD v3: 11-119093615-C-G
gnomAD v4: 11-119093615-C-G
MyVariant Identifiers: chr11:g.118964325C>G (hg19) chr11:g.119093615C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093615C>G , CM000673.2:g.119093615C>G GRCh38
NC_000011.9:g.118964325C>G , CM000673.1:g.118964325C>G GRCh37
NC_000011.8:g.118469535C>G NCBI36
NG_008093.1:g.13739C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*332C>G ENSP00000509288.1:n.*332C>G
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