Canonical Allele Identifier: CA387012868

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284826T>G (hg19) ; chr12:g.121846920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121846920T>G , CM000674.2:g.121846920T>G	GRCh38
NC_000012.11:g.122284826T>G , CM000674.1:g.122284826T>G	GRCh37
NC_000012.10:g.120769209T>G	NCBI36
NG_016461.1:g.46692A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.773A>C MANE Select	ENSP00000289004.4:p.Tyr258Ser
ENST00000543163.5:c.656A>C	ENSP00000441677.1:p.Tyr219Ser
NM_001171993.1:c.656A>C	NP_001165464.1:p.Tyr219Ser
NM_002150.2:c.773A>C	NP_002141.1:p.Tyr258Ser
NM_002150.3:c.773A>C MANE Select	NP_002141.2:p.Tyr258Ser
NM_001171993.2:c.656A>C	NP_001165464.1:p.Tyr219Ser