Canonical Allele Identifier: CA2575327698

Gene: HPD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846988G>A , CM000674.2:g.121846988G>A	GRCh38
NC_000012.11:g.122284894G>A , CM000674.1:g.122284894G>A	GRCh37
NC_000012.10:g.120769277G>A	NCBI36
NG_016461.1:g.46624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.760-55C>T MANE Select	ENSP00000289004.4:n.760-55C>T
ENST00000543163.5:c.643-55C>T	ENSP00000441677.1:n.643-55C>T
NM_001171993.1:c.643-55C>T	NP_001165464.1:n.643-55C>T
NM_002150.2:c.760-55C>T	NP_002141.1:n.760-55C>T
NM_002150.3:c.760-55C>T MANE Select	NP_002141.2:n.760-55C>T
NM_001171993.2:c.643-55C>T	NP_001165464.1:n.643-55C>T