Canonical Allele Identifier: CA482193311

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284825A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846919A>G , CM000674.2:g.121846919A>G	GRCh38
NC_000012.11:g.122284825A>G , CM000674.1:g.122284825A>G	GRCh37
NC_000012.10:g.120769208A>G	NCBI36
NG_016461.1:g.46693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289004.8:c.774T>C MANE Select	ENSP00000289004.4:p.Tyr258=
ENST00000543163.5:c.657T>C	ENSP00000441677.1:p.Tyr219=
NM_001171993.1:c.657T>C	NP_001165464.1:p.Tyr219=
NM_002150.2:c.774T>C	NP_002141.1:p.Tyr258=
NM_002150.3:c.774T>C MANE Select	NP_002141.2:p.Tyr258=
NM_001171993.2:c.657T>C	NP_001165464.1:p.Tyr219=