Canonical Allele Identifier: CA387012884

Gene: HPD

Linked Data

• MyVariant Identifiers: chr12:g.122284828G>C (hg19) ; chr12:g.121846922G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000289004.8:c.771C>G MANE Select	ENSP00000289004.4:p.Asp257Glu
ENST00000543163.5:c.654C>G	ENSP00000441677.1:p.Asp218Glu
NM_001171993.1:c.654C>G	NP_001165464.1:p.Asp218Glu
NM_002150.2:c.771C>G	NP_002141.1:p.Asp257Glu
NM_002150.3:c.771C>G MANE Select	NP_002141.2:p.Asp257Glu
NM_001171993.2:c.654C>G	NP_001165464.1:p.Asp218Glu