Canonical Allele Identifier: CA2612149563
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234629-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234629G>A , CM000673.2:g.5234629G>A GRCh38
NC_000011.9:g.5255859G>A , CM000673.1:g.5255859G>A GRCh37
NC_000011.8:g.5212435G>A NCBI36
NG_000007.3:g.62987C>T
NG_063112.2:g.14029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-168C>T ENSP00000494708.1:n.-28-168C>T
ENST00000380299.3:c.-196C>T ENSP00000369654.3:n.-196C>T
ENST00000429817.1:c.-97-99C>T ENSP00000393810.1:n.-97-99C>T
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