Canonical Allele Identifier: CA387012614

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284796G>T (hg19) ; chr12:g.121846890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846890G>T , CM000674.2:g.121846890G>T	GRCh38
NC_000012.11:g.122284796G>T , CM000674.1:g.122284796G>T	GRCh37
NC_000012.10:g.120769179G>T	NCBI36
NG_016461.1:g.46722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.803C>A MANE Select	ENSP00000289004.4:p.Ala268Asp
ENST00000543163.5:c.686C>A	ENSP00000441677.1:p.Ala229Asp
NM_001171993.1:c.686C>A	NP_001165464.1:p.Ala229Asp
NM_002150.2:c.803C>A	NP_002141.1:p.Ala268Asp
NM_002150.3:c.803C>A MANE Select	NP_002141.2:p.Ala268Asp
NM_001171993.2:c.686C>A	NP_001165464.1:p.Ala229Asp