Canonical Allele Identifier: CA482193317

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284828G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846922G>A , CM000674.2:g.121846922G>A	GRCh38
NC_000012.11:g.122284828G>A , CM000674.1:g.122284828G>A	GRCh37
NC_000012.10:g.120769211G>A	NCBI36
NG_016461.1:g.46690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.771C>T MANE Select	ENSP00000289004.4:p.Asp257=
ENST00000543163.5:c.654C>T	ENSP00000441677.1:p.Asp218=
NM_001171993.1:c.654C>T	NP_001165464.1:p.Asp218=
NM_002150.2:c.771C>T	NP_002141.1:p.Asp257=
NM_002150.3:c.771C>T MANE Select	NP_002141.2:p.Asp257=
NM_001171993.2:c.654C>T	NP_001165464.1:p.Asp218=