Canonical Allele Identifier: CA2612149633
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5234680-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234680C>A , CM000673.2:g.5234680C>A GRCh38
NC_000011.9:g.5255910C>A , CM000673.1:g.5255910C>A GRCh37
NC_000011.8:g.5212486C>A NCBI36
NG_000007.3:g.62936G>T
NG_063112.2:g.13978G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.-28-219G>T ENSP00000494708.1:n.-28-219G>T
ENST00000429817.1:c.-97-150G>T ENSP00000393810.1:n.-97-150G>T
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