Canonical Allele Identifier: CA2068077951
Gene: HPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846916G= , CM000674.2:g.121846916G= GRCh38
NC_000012.11:g.122284822G= , CM000674.1:g.122284822G= GRCh37
NC_000012.10:g.120769205G= NCBI36
NG_016461.1:g.46696C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000289004.8:c.777C= MANE Select ENSP00000289004.4:p.Asn259=
ENST00000543163.5:c.660C= ENSP00000441677.1:p.Asn220=
NM_001171993.1:c.660C= NP_001165464.1:p.Asn220=
NM_002150.2:c.777C= NP_002141.1:p.Asn259=
NM_002150.3:c.777C= MANE Select NP_002141.2:p.Asn259=
NM_001171993.2:c.660C= NP_001165464.1:p.Asn220=