Canonical Allele Identifier: CA111125712

Gene: HPGD

Linked Data

• dbSNP Id: rs867023560
• MyVariant Identifiers: chr4:g.175414351C>T (hg19) ; chr4:g.174493200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493200C>T , CM000666.2:g.174493200C>T	GRCh38
NC_000004.11:g.175414351C>T , CM000666.1:g.175414351C>T	GRCh37
NC_000004.10:g.175650926C>T	NCBI36
NG_011689.1:g.34442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.613G>A MANE Select	ENSP00000296522.6:p.Glu205Lys
ENST00000296521.11:c.499-1106G>A	ENSP00000296521.7:n.499-1106G>A
ENST00000296522.10:c.613G>A	ENSP00000296522.6:p.Glu205Lys
ENST00000422112.6:c.409G>A	ENSP00000398720.2:p.Glu137Lys
ENST00000506910.5:c.250G>A	ENSP00000423066.1:p.Glu84Lys
ENST00000508330.5:c.*242G>A	ENSP00000425741.1:n.*242G>A
ENST00000509512.1:n.262G>A
ENST00000510835.5:c.*375G>A	ENSP00000427699.1:n.*375G>A
ENST00000510901.5:c.250G>A	ENSP00000422418.1:p.Glu84Lys
ENST00000511499.5:n.397G>A
ENST00000514584.5:c.250G>A	ENSP00000423110.1:p.Glu84Lys
ENST00000541923.5:c.250G>A	ENSP00000438017.1:p.Glu84Lys
ENST00000542498.5:c.422-1106G>A	ENSP00000443644.1:n.422-1106G>A
NM_000860.5:c.613G>A	NP_000851.2:p.Glu205Lys
NM_001145816.2:c.499-1106G>A	NP_001139288.1:n.499-1106G>A
NM_001256301.1:c.250G>A	NP_001243230.1:p.Glu84Lys
NM_001256305.1:c.422-1106G>A	NP_001243234.1:n.422-1106G>A
NM_001256306.1:c.409G>A	NP_001243235.1:p.Glu137Lys
NM_001256307.1:c.250G>A	NP_001243236.1:p.Glu84Lys
NM_000860.6:c.613G>A MANE Select	NP_000851.2:p.Glu205Lys
NM_001145816.3:c.499-1106G>A	NP_001139288.1:n.499-1106G>A
NM_001256305.2:c.422-1106G>A	NP_001243234.1:n.422-1106G>A
NM_001256306.2:c.409G>A	NP_001243235.1:p.Glu137Lys
NM_001256307.2:c.250G>A	NP_001243236.1:p.Glu84Lys