Canonical Allele Identifier: CA2612149647
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234687-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234687T>A , CM000673.2:g.5234687T>A GRCh38
NC_000011.9:g.5255917T>A , CM000673.1:g.5255917T>A GRCh37
NC_000011.8:g.5212493T>A NCBI36
NG_000007.3:g.62929A>T
NG_063112.2:g.13971A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-226A>T ENSP00000494708.1:n.-28-226A>T
ENST00000429817.1:c.-97-157A>T ENSP00000393810.1:n.-97-157A>T
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