Canonical Allele Identifier: CA2612149573
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234639-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234639G>T , CM000673.2:g.5234639G>T GRCh38
NC_000011.9:g.5255869G>T , CM000673.1:g.5255869G>T GRCh37
NC_000011.8:g.5212445G>T NCBI36
NG_000007.3:g.62977C>A
NG_063112.2:g.14019C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-178C>A ENSP00000494708.1:n.-28-178C>A
ENST00000380299.3:c.-206C>A ENSP00000369654.3:n.-206C>A
ENST00000429817.1:c.-97-109C>A ENSP00000393810.1:n.-97-109C>A
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