Canonical Allele Identifier: CA2612149484
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234563-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234563C>T , CM000673.2:g.5234563C>T GRCh38
NC_000011.9:g.5255793C>T , CM000673.1:g.5255793C>T GRCh37
NC_000011.8:g.5212369C>T NCBI36
NG_000007.3:g.63053G>A
NG_063112.2:g.14095G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.-28-102G>A ENSP00000494708.1:n.-28-102G>A
ENST00000380299.3:c.-130G>A ENSP00000369654.3:n.-130G>A
ENST00000429817.1:c.-97-33G>A ENSP00000393810.1:n.-97-33G>A
NM_000519.3:c.-130G>A NP_000510.1:n.-130G>A
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