Canonical Allele Identifier: CA229597834
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs146519649
gnomAD v3: 11-119093591-C-G
gnomAD v4: 11-119093591-C-G
MyVariant Identifiers: chr11:g.118964301C>G (hg19) chr11:g.119093591C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093591C>G , CM000673.2:g.119093591C>G GRCh38
NC_000011.9:g.118964301C>G , CM000673.1:g.118964301C>G GRCh37
NC_000011.8:g.118469511C>G NCBI36
NG_008093.1:g.13715C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*308C>G ENSP00000509288.1:n.*308C>G
Search 100 bp 5'
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