Canonical Allele Identifier: CA229597835
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1008640104
gnomAD v4: 11-119093599-C-T
MyVariant Identifiers: chr11:g.118964309C>T (hg19) chr11:g.119093599C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093599C>T , CM000673.2:g.119093599C>T GRCh38
NC_000011.9:g.118964309C>T , CM000673.1:g.118964309C>T GRCh37
NC_000011.8:g.118469519C>T NCBI36
NG_008093.1:g.13723C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*316C>T ENSP00000509288.1:n.*316C>T
Search 100 bp 5'
Search 100 bp 3'