Canonical Allele Identifier: CA1514328756
Gene: HPGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493136C= , CM000666.2:g.174493136C= GRCh38
NC_000004.11:g.175414287C= , CM000666.1:g.175414287C= GRCh37
NC_000004.10:g.175650862C= NCBI36
NG_011689.1:g.34506G=

Transcript Alleles

HGVS Amino-acid change
ENST00000296522.11:c.662+15G= MANE Select ENSP00000296522.6:n.662+15G=
ENST00000296521.11:c.499-1042G= ENSP00000296521.7:n.499-1042G=
ENST00000296522.10:c.662+15G= ENSP00000296522.6:n.662+15G=
ENST00000422112.6:c.458+15G= ENSP00000398720.2:n.458+15G=
ENST00000508330.5:c.*291+15G= ENSP00000425741.1:n.*291+15G=
ENST00000509512.1:n.311+15G=
ENST00000510835.5:c.*424+15G= ENSP00000427699.1:n.*424+15G=
ENST00000510901.5:c.299+15G= ENSP00000422418.1:n.299+15G=
ENST00000511499.5:n.446+15G=
ENST00000541923.5:c.299+15G= ENSP00000438017.1:n.299+15G=
ENST00000542498.5:c.422-1042G= ENSP00000443644.1:n.422-1042G=
NM_000860.5:c.662+15G= NP_000851.2:n.662+15G=
NM_001145816.2:c.499-1042G= NP_001139288.1:n.499-1042G=
NM_001256301.1:c.299+15G= NP_001243230.1:n.299+15G=
NM_001256305.1:c.422-1042G= NP_001243234.1:n.422-1042G=
NM_001256306.1:c.458+15G= NP_001243235.1:n.458+15G=
NM_001256307.1:c.299+15G= NP_001243236.1:n.299+15G=
NM_000860.6:c.662+15G= MANE Select NP_000851.2:n.662+15G=
NM_001145816.3:c.499-1042G= NP_001139288.1:n.499-1042G=
NM_001256305.2:c.422-1042G= NP_001243234.1:n.422-1042G=
NM_001256306.2:c.458+15G= NP_001243235.1:n.458+15G=
NM_001256307.2:c.299+15G= NP_001243236.1:n.299+15G=