Canonical Allele Identifier: CA358812031
Gene: HPGD HGNC NCBI

Linked Data

dbSNP Id: rs1734425775

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493206A>G , CM000666.2:g.174493206A>G GRCh38
NC_000004.11:g.175414357A>G , CM000666.1:g.175414357A>G GRCh37
NC_000004.10:g.175650932A>G NCBI36
NG_011689.1:g.34436T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.607T>C MANE Select ENSP00000296522.6:p.Tyr203His
ENST00000296521.11:c.499-1112T>C ENSP00000296521.7:n.499-1112T>C
ENST00000296522.10:c.607T>C ENSP00000296522.6:p.Tyr203His
ENST00000422112.6:c.403T>C ENSP00000398720.2:p.Tyr135His
ENST00000506910.5:c.244T>C ENSP00000423066.1:p.Tyr82His
ENST00000508330.5:c.*236T>C ENSP00000425741.1:n.*236T>C
ENST00000509512.1:n.256T>C
ENST00000510835.5:c.*369T>C ENSP00000427699.1:n.*369T>C
ENST00000510901.5:c.244T>C ENSP00000422418.1:p.Tyr82His
ENST00000511499.5:n.391T>C
ENST00000514584.5:c.244T>C ENSP00000423110.1:p.Tyr82His
ENST00000541923.5:c.244T>C ENSP00000438017.1:p.Tyr82His
ENST00000542498.5:c.422-1112T>C ENSP00000443644.1:n.422-1112T>C
NM_000860.5:c.607T>C NP_000851.2:p.Tyr203His
NM_001145816.2:c.499-1112T>C NP_001139288.1:n.499-1112T>C
NM_001256301.1:c.244T>C NP_001243230.1:p.Tyr82His
NM_001256305.1:c.422-1112T>C NP_001243234.1:n.422-1112T>C
NM_001256306.1:c.403T>C NP_001243235.1:p.Tyr135His
NM_001256307.1:c.244T>C NP_001243236.1:p.Tyr82His
NM_000860.6:c.607T>C MANE Select NP_000851.2:p.Tyr203His
NM_001145816.3:c.499-1112T>C NP_001139288.1:n.499-1112T>C
NM_001256305.2:c.422-1112T>C NP_001243234.1:n.422-1112T>C
NM_001256306.2:c.403T>C NP_001243235.1:p.Tyr135His
NM_001256307.2:c.244T>C NP_001243236.1:p.Tyr82His