Canonical Allele Identifier: CA2741145798
Gene: HBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234562G>T , CM000673.2:g.5234562G>T GRCh38
NC_000011.9:g.5255792G>T , CM000673.1:g.5255792G>T GRCh37
NC_000011.8:g.5212368G>T NCBI36
NG_000007.3:g.63054C>A
NG_063112.2:g.14096C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-101C>A ENSP00000494708.1:n.-28-101C>A
ENST00000380299.3:c.-129C>A ENSP00000369654.3:n.-129C>A
ENST00000429817.1:c.-97-32C>A ENSP00000393810.1:n.-97-32C>A
NM_000519.3:c.-129C>A NP_000510.1:n.-129C>A
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