Canonical Allele Identifier: CA387012880

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284827A>T (hg19) ; chr12:g.121846921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846921A>T , CM000674.2:g.121846921A>T	GRCh38
NC_000012.11:g.122284827A>T , CM000674.1:g.122284827A>T	GRCh37
NC_000012.10:g.120769210A>T	NCBI36
NG_016461.1:g.46691T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.772T>A MANE Select	ENSP00000289004.4:p.Tyr258Asn
ENST00000543163.5:c.655T>A	ENSP00000441677.1:p.Tyr219Asn
NM_001171993.1:c.655T>A	NP_001165464.1:p.Tyr219Asn
NM_002150.2:c.772T>A	NP_002141.1:p.Tyr258Asn
NM_002150.3:c.772T>A MANE Select	NP_002141.2:p.Tyr258Asn
NM_001171993.2:c.655T>A	NP_001165464.1:p.Tyr219Asn