Canonical Allele Identifier: CA387013830

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122285025T>A (hg19) ; chr12:g.121847119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121847119T>A , CM000674.2:g.121847119T>A	GRCh38
NC_000012.11:g.122285025T>A , CM000674.1:g.122285025T>A	GRCh37
NC_000012.10:g.120769408T>A	NCBI36
NG_016461.1:g.46493A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.692A>T MANE Select	ENSP00000289004.4:p.Asn231Ile
ENST00000543163.5:c.575A>T	ENSP00000441677.1:p.Asn192Ile
NM_001171993.1:c.575A>T	NP_001165464.1:p.Asn192Ile
NM_002150.2:c.692A>T	NP_002141.1:p.Asn231Ile
NM_002150.3:c.692A>T MANE Select	NP_002141.2:p.Asn231Ile
NM_001171993.2:c.575A>T	NP_001165464.1:p.Asn192Ile