Canonical Allele Identifier: CA119156
Gene: HPGD HGNC NCBI

Linked Data

ClinVar Variation Id: 7920
dbSNP Id: rs121434481

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493236A>G , CM000666.2:g.174493236A>G GRCh38
NC_000004.11:g.175414387A>G , CM000666.1:g.175414387A>G GRCh37
NC_000004.10:g.175650962A>G NCBI36
NG_011689.1:g.34406T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296522.11:c.577T>C MANE Select ENSP00000296522.6:p.Ser193Pro
ENST00000296521.11:c.499-1142T>C ENSP00000296521.7:n.499-1142T>C
ENST00000296522.10:c.577T>C ENSP00000296522.6:p.Ser193Pro
ENST00000422112.6:c.373T>C ENSP00000398720.2:p.Ser125Pro
ENST00000506910.5:c.214T>C ENSP00000423066.1:p.Ser72Pro
ENST00000508330.5:c.*206T>C ENSP00000425741.1:n.*206T>C
ENST00000509512.1:n.226T>C
ENST00000510835.5:c.*339T>C ENSP00000427699.1:n.*339T>C
ENST00000510901.5:c.214T>C ENSP00000422418.1:p.Ser72Pro
ENST00000511499.5:n.361T>C
ENST00000514584.5:c.214T>C ENSP00000423110.1:p.Ser72Pro
ENST00000541923.5:c.214T>C ENSP00000438017.1:p.Ser72Pro
ENST00000542498.5:c.422-1142T>C ENSP00000443644.1:n.422-1142T>C
NM_000860.5:c.577T>C NP_000851.2:p.Ser193Pro
NM_001145816.2:c.499-1142T>C NP_001139288.1:n.499-1142T>C
NM_001256301.1:c.214T>C NP_001243230.1:p.Ser72Pro
NM_001256305.1:c.422-1142T>C NP_001243234.1:n.422-1142T>C
NM_001256306.1:c.373T>C NP_001243235.1:p.Ser125Pro
NM_001256307.1:c.214T>C NP_001243236.1:p.Ser72Pro
NM_000860.6:c.577T>C MANE Select NP_000851.2:p.Ser193Pro
NM_001145816.3:c.499-1142T>C NP_001139288.1:n.499-1142T>C
NM_001256305.2:c.422-1142T>C NP_001243234.1:n.422-1142T>C
NM_001256306.2:c.373T>C NP_001243235.1:p.Ser125Pro
NM_001256307.2:c.214T>C NP_001243236.1:p.Ser72Pro