Canonical Allele Identifier: CA358812089

Gene: HPGD

Linked Data

• MyVariant Identifiers: chr4:g.175414381C>T (hg19) ; chr4:g.174493230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493230C>T , CM000666.2:g.174493230C>T	GRCh38
NC_000004.11:g.175414381C>T , CM000666.1:g.175414381C>T	GRCh37
NC_000004.10:g.175650956C>T	NCBI36
NG_011689.1:g.34412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.583G>A MANE Select	ENSP00000296522.6:p.Glu195Lys
ENST00000296521.11:c.499-1136G>A	ENSP00000296521.7:n.499-1136G>A
ENST00000296522.10:c.583G>A	ENSP00000296522.6:p.Glu195Lys
ENST00000422112.6:c.379G>A	ENSP00000398720.2:p.Glu127Lys
ENST00000506910.5:c.220G>A	ENSP00000423066.1:p.Glu74Lys
ENST00000508330.5:c.*212G>A	ENSP00000425741.1:n.*212G>A
ENST00000509512.1:n.232G>A
ENST00000510835.5:c.*345G>A	ENSP00000427699.1:n.*345G>A
ENST00000510901.5:c.220G>A	ENSP00000422418.1:p.Glu74Lys
ENST00000511499.5:n.367G>A
ENST00000514584.5:c.220G>A	ENSP00000423110.1:p.Glu74Lys
ENST00000541923.5:c.220G>A	ENSP00000438017.1:p.Glu74Lys
ENST00000542498.5:c.422-1136G>A	ENSP00000443644.1:n.422-1136G>A
NM_000860.5:c.583G>A	NP_000851.2:p.Glu195Lys
NM_001145816.2:c.499-1136G>A	NP_001139288.1:n.499-1136G>A
NM_001256301.1:c.220G>A	NP_001243230.1:p.Glu74Lys
NM_001256305.1:c.422-1136G>A	NP_001243234.1:n.422-1136G>A
NM_001256306.1:c.379G>A	NP_001243235.1:p.Glu127Lys
NM_001256307.1:c.220G>A	NP_001243236.1:p.Glu74Lys
NM_000860.6:c.583G>A MANE Select	NP_000851.2:p.Glu195Lys
NM_001145816.3:c.499-1136G>A	NP_001139288.1:n.499-1136G>A
NM_001256305.2:c.422-1136G>A	NP_001243234.1:n.422-1136G>A
NM_001256306.2:c.379G>A	NP_001243235.1:p.Glu127Lys
NM_001256307.2:c.220G>A	NP_001243236.1:p.Glu74Lys