Canonical Allele Identifier: CA111125713
Gene: HPGD HGNC NCBI

Linked Data

dbSNP Id: rs145014353

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493203T>C , CM000666.2:g.174493203T>C GRCh38
NC_000004.11:g.175414354T>C , CM000666.1:g.175414354T>C GRCh37
NC_000004.10:g.175650929T>C NCBI36
NG_011689.1:g.34439A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.610A>G MANE Select ENSP00000296522.6:p.Ile204Val
ENST00000296521.11:c.499-1109A>G ENSP00000296521.7:n.499-1109A>G
ENST00000296522.10:c.610A>G ENSP00000296522.6:p.Ile204Val
ENST00000422112.6:c.406A>G ENSP00000398720.2:p.Ile136Val
ENST00000506910.5:c.247A>G ENSP00000423066.1:p.Ile83Val
ENST00000508330.5:c.*239A>G ENSP00000425741.1:n.*239A>G
ENST00000509512.1:n.259A>G
ENST00000510835.5:c.*372A>G ENSP00000427699.1:n.*372A>G
ENST00000510901.5:c.247A>G ENSP00000422418.1:p.Ile83Val
ENST00000511499.5:n.394A>G
ENST00000514584.5:c.247A>G ENSP00000423110.1:p.Ile83Val
ENST00000541923.5:c.247A>G ENSP00000438017.1:p.Ile83Val
ENST00000542498.5:c.422-1109A>G ENSP00000443644.1:n.422-1109A>G
NM_000860.5:c.610A>G NP_000851.2:p.Ile204Val
NM_001145816.2:c.499-1109A>G NP_001139288.1:n.499-1109A>G
NM_001256301.1:c.247A>G NP_001243230.1:p.Ile83Val
NM_001256305.1:c.422-1109A>G NP_001243234.1:n.422-1109A>G
NM_001256306.1:c.406A>G NP_001243235.1:p.Ile136Val
NM_001256307.1:c.247A>G NP_001243236.1:p.Ile83Val
NM_000860.6:c.610A>G MANE Select NP_000851.2:p.Ile204Val
NM_001145816.3:c.499-1109A>G NP_001139288.1:n.499-1109A>G
NM_001256305.2:c.422-1109A>G NP_001243234.1:n.422-1109A>G
NM_001256306.2:c.406A>G NP_001243235.1:p.Ile136Val
NM_001256307.2:c.247A>G NP_001243236.1:p.Ile83Val