Canonical Allele Identifier: CA217124671
Gene: HBD HGNC NCBI

Linked Data

dbSNP Id: rs1033775799
gnomAD v2: 11-5255908-C-T
gnomAD v3: 11-5234678-C-T
gnomAD v4: 11-5234678-C-T
MyVariant Identifiers: chr11:g.5255908C>T (hg19) chr11:g.5234678C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234678C>T , CM000673.2:g.5234678C>T GRCh38
NC_000011.9:g.5255908C>T , CM000673.1:g.5255908C>T GRCh37
NC_000011.8:g.5212484C>T NCBI36
NG_000007.3:g.62938G>A
NG_063112.2:g.13980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-217G>A ENSP00000494708.1:n.-28-217G>A
ENST00000429817.1:c.-97-148G>A ENSP00000393810.1:n.-97-148G>A
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