Canonical Allele Identifier: CA3142219
Gene: HPGD HGNC NCBI

Linked Data

dbSNP Id: rs751997121

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493247G>A , CM000666.2:g.174493247G>A GRCh38
NC_000004.11:g.175414398G>A , CM000666.1:g.175414398G>A GRCh37
NC_000004.10:g.175650973G>A NCBI36
NG_011689.1:g.34395C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.566C>T MANE Select ENSP00000296522.6:p.Ala189Val
ENST00000296521.11:c.499-1153C>T ENSP00000296521.7:n.499-1153C>T
ENST00000296522.10:c.566C>T ENSP00000296522.6:p.Ala189Val
ENST00000422112.6:c.362C>T ENSP00000398720.2:p.Ala121Val
ENST00000506910.5:c.203C>T ENSP00000423066.1:p.Ala68Val
ENST00000508330.5:c.*195C>T ENSP00000425741.1:n.*195C>T
ENST00000509512.1:n.215C>T
ENST00000510835.5:c.*328C>T ENSP00000427699.1:n.*328C>T
ENST00000510901.5:c.203C>T ENSP00000422418.1:p.Ala68Val
ENST00000511499.5:n.350C>T
ENST00000514584.5:c.203C>T ENSP00000423110.1:p.Ala68Val
ENST00000541923.5:c.203C>T ENSP00000438017.1:p.Ala68Val
ENST00000542498.5:c.422-1153C>T ENSP00000443644.1:n.422-1153C>T
NM_000860.5:c.566C>T NP_000851.2:p.Ala189Val
NM_001145816.2:c.499-1153C>T NP_001139288.1:n.499-1153C>T
NM_001256301.1:c.203C>T NP_001243230.1:p.Ala68Val
NM_001256305.1:c.422-1153C>T NP_001243234.1:n.422-1153C>T
NM_001256306.1:c.362C>T NP_001243235.1:p.Ala121Val
NM_001256307.1:c.203C>T NP_001243236.1:p.Ala68Val
NM_000860.6:c.566C>T MANE Select NP_000851.2:p.Ala189Val
NM_001145816.3:c.499-1153C>T NP_001139288.1:n.499-1153C>T
NM_001256305.2:c.422-1153C>T NP_001243234.1:n.422-1153C>T
NM_001256306.2:c.362C>T NP_001243235.1:p.Ala121Val
NM_001256307.2:c.203C>T NP_001243236.1:p.Ala68Val