Canonical Allele Identifier: CA2068078115

Gene: HPD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846996A= , CM000674.2:g.121846996A=	GRCh38
NC_000012.11:g.122284902A= , CM000674.1:g.122284902A=	GRCh37
NC_000012.10:g.120769285A=	NCBI36
NG_016461.1:g.46616T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.759+56T= MANE Select	ENSP00000289004.4:n.759+56T=
ENST00000543163.5:c.642+56T=	ENSP00000441677.1:n.642+56T=
NM_001171993.1:c.642+56T=	NP_001165464.1:n.642+56T=
NM_002150.2:c.759+56T=	NP_002141.1:n.759+56T=
NM_002150.3:c.759+56T= MANE Select	NP_002141.2:n.759+56T=
NM_001171993.2:c.642+56T=	NP_001165464.1:n.642+56T=