Canonical Allele Identifier: CA2068077800
Gene: HPD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846854G= , CM000674.2:g.121846854G= GRCh38
NC_000012.11:g.122284760G= , CM000674.1:g.122284760G= GRCh37
NC_000012.10:g.120769143G= NCBI36
NG_016461.1:g.46758C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.831+8C= MANE Select ENSP00000289004.4:n.831+8C=
ENST00000543163.5:c.714+8C= ENSP00000441677.1:n.714+8C=
NM_001171993.1:c.714+8C= NP_001165464.1:n.714+8C=
NM_002150.2:c.831+8C= NP_002141.1:n.831+8C=
NM_002150.3:c.831+8C= MANE Select NP_002141.2:n.831+8C=
NM_001171993.2:c.714+8C= NP_001165464.1:n.714+8C=
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