Canonical Allele Identifier: CA2068077983
Gene: HPD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121846928A= , CM000674.2:g.121846928A= GRCh38
NC_000012.11:g.122284834A= , CM000674.1:g.122284834A= GRCh37
NC_000012.10:g.120769217A= NCBI36
NG_016461.1:g.46684T=

Transcript Alleles

HGVS Amino-acid change
ENST00000289004.8:c.765T= MANE Select ENSP00000289004.4:p.Tyr255=
ENST00000543163.5:c.648T= ENSP00000441677.1:p.Tyr216=
NM_001171993.1:c.648T= NP_001165464.1:p.Tyr216=
NM_002150.2:c.765T= NP_002141.1:p.Tyr255=
NM_002150.3:c.765T= MANE Select NP_002141.2:p.Tyr255=
NM_001171993.2:c.648T= NP_001165464.1:p.Tyr216=