Canonical Allele Identifier: CA2612148763
Gene: HBD HGNC NCBI

Linked Data

gnomAD v4: 11-5233951-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233951G>T , CM000673.2:g.5233951G>T GRCh38
NC_000011.9:g.5255181G>T , CM000673.1:g.5255181G>T GRCh37
NC_000011.8:g.5211757G>T NCBI36
NG_000007.3:g.63665C>A
NG_063112.2:g.14707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.315+40C>A ENSP00000494708.1:n.315+40C>A
ENST00000650601.1:c.315+40C>A MANE Select ENSP00000497529.1:n.315+40C>A
ENST00000292901.7:c.315+40C>A ENSP00000292901.3:n.315+40C>A
ENST00000380299.3:c.315+40C>A ENSP00000369654.3:n.315+40C>A
ENST00000417377.1:c.92+391C>A ENSP00000414741.1:n.92+391C>A
NM_000519.3:c.315+40C>A NP_000510.1:n.315+40C>A
NM_000519.4:c.315+40C>A MANE Select NP_000510.1:n.315+40C>A
Search 100 bp 5'
Search 100 bp 3'