Canonical Allele Identifier: CA387012617

Gene: HPD

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.803C>T MANE Select	ENSP00000289004.4:p.Ala268Val
ENST00000543163.5:c.686C>T	ENSP00000441677.1:p.Ala229Val
NM_001171993.1:c.686C>T	NP_001165464.1:p.Ala229Val
NM_002150.2:c.803C>T	NP_002141.1:p.Ala268Val
NM_002150.3:c.803C>T MANE Select	NP_002141.2:p.Ala268Val
NM_001171993.2:c.686C>T	NP_001165464.1:p.Ala229Val