Canonical Allele Identifier: CA229597833
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs887141267
gnomAD v4: 11-119093587-C-A
MyVariant Identifiers: chr11:g.118964297C>A (hg19) chr11:g.119093587C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093587C>A , CM000673.2:g.119093587C>A GRCh38
NC_000011.9:g.118964297C>A , CM000673.1:g.118964297C>A GRCh37
NC_000011.8:g.118469507C>A NCBI36
NG_008093.1:g.13711C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*304C>A ENSP00000509288.1:n.*304C>A
Search 100 bp 5'
Search 100 bp 3'