Canonical Allele Identifier: CA2612149693
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234702-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234702T>A , CM000673.2:g.5234702T>A GRCh38
NC_000011.9:g.5255932T>A , CM000673.1:g.5255932T>A GRCh37
NC_000011.8:g.5212508T>A NCBI36
NG_000007.3:g.62914A>T
NG_063112.2:g.13956A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-241A>T ENSP00000494708.1:n.-28-241A>T
ENST00000429817.1:c.-97-172A>T ENSP00000393810.1:n.-97-172A>T
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