Canonical Allele Identifier: CA2068078414

Gene: HPD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121847119T= , CM000674.2:g.121847119T=	GRCh38
NC_000012.11:g.122285025T= , CM000674.1:g.122285025T=	GRCh37
NC_000012.10:g.120769408T=	NCBI36
NG_016461.1:g.46493A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.692A= MANE Select	ENSP00000289004.4:p.Asn231=
ENST00000543163.5:c.575A=	ENSP00000441677.1:p.Asn192=
NM_001171993.1:c.575A=	NP_001165464.1:p.Asn192=
NM_002150.2:c.692A=	NP_002141.1:p.Asn231=
NM_002150.3:c.692A= MANE Select	NP_002141.2:p.Asn231=
NM_001171993.2:c.575A=	NP_001165464.1:p.Asn192=