Canonical Allele Identifier: CA3142200
Gene: HPGD HGNC NCBI

Linked Data

dbSNP Id: rs758873509

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493161C>T , CM000666.2:g.174493161C>T GRCh38
NC_000004.11:g.175414312C>T , CM000666.1:g.175414312C>T GRCh37
NC_000004.10:g.175650887C>T NCBI36
NG_011689.1:g.34481G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.652G>A MANE Select ENSP00000296522.6:p.Gly218Arg
ENST00000296521.11:c.499-1067G>A ENSP00000296521.7:n.499-1067G>A
ENST00000296522.10:c.652G>A ENSP00000296522.6:p.Gly218Arg
ENST00000422112.6:c.448G>A ENSP00000398720.2:p.Gly150Arg
ENST00000506910.5:c.289G>A ENSP00000423066.1:p.Gly97Arg
ENST00000508330.5:c.*281G>A ENSP00000425741.1:n.*281G>A
ENST00000509512.1:n.301G>A
ENST00000510835.5:c.*414G>A ENSP00000427699.1:n.*414G>A
ENST00000510901.5:c.289G>A ENSP00000422418.1:p.Gly97Arg
ENST00000511499.5:n.436G>A
ENST00000514584.5:c.289G>A ENSP00000423110.1:p.Gly97Arg
ENST00000541923.5:c.289G>A ENSP00000438017.1:p.Gly97Arg
ENST00000542498.5:c.422-1067G>A ENSP00000443644.1:n.422-1067G>A
NM_000860.5:c.652G>A NP_000851.2:p.Gly218Arg
NM_001145816.2:c.499-1067G>A NP_001139288.1:n.499-1067G>A
NM_001256301.1:c.289G>A NP_001243230.1:p.Gly97Arg
NM_001256305.1:c.422-1067G>A NP_001243234.1:n.422-1067G>A
NM_001256306.1:c.448G>A NP_001243235.1:p.Gly150Arg
NM_001256307.1:c.289G>A NP_001243236.1:p.Gly97Arg
NM_000860.6:c.652G>A MANE Select NP_000851.2:p.Gly218Arg
NM_001145816.3:c.499-1067G>A NP_001139288.1:n.499-1067G>A
NM_001256305.2:c.422-1067G>A NP_001243234.1:n.422-1067G>A
NM_001256306.2:c.448G>A NP_001243235.1:p.Gly150Arg
NM_001256307.2:c.289G>A NP_001243236.1:p.Gly97Arg