Canonical Allele Identifier: CA482193292

Gene: HPD

Linked Data

• COSMIC: COSM6071697
• MyVariant Identifiers: chr12:g.122284813A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846907A>T , CM000674.2:g.121846907A>T	GRCh38
NC_000012.11:g.122284813A>T , CM000674.1:g.122284813A>T	GRCh37
NC_000012.10:g.120769196A>T	NCBI36
NG_016461.1:g.46705T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.786T>A MANE Select	ENSP00000289004.4:p.Ala262=
ENST00000543163.5:c.669T>A	ENSP00000441677.1:p.Ala223=
NM_001171993.1:c.669T>A	NP_001165464.1:p.Ala223=
NM_002150.2:c.786T>A	NP_002141.1:p.Ala262=
NM_002150.3:c.786T>A MANE Select	NP_002141.2:p.Ala262=
NM_001171993.2:c.669T>A	NP_001165464.1:p.Ala223=