Canonical Allele Identifier: CA1514328827

Gene: HPGD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493271A= , CM000666.2:g.174493271A=	GRCh38
NC_000004.11:g.175414422A= , CM000666.1:g.175414422A=	GRCh37
NC_000004.10:g.175650997A=	NCBI36
NG_011689.1:g.34371T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.542T= MANE Select	ENSP00000296522.6:p.Ile181=
ENST00000296521.11:c.499-1177T=	ENSP00000296521.7:n.499-1177T=
ENST00000296522.10:c.542T=	ENSP00000296522.6:p.Ile181=
ENST00000422112.6:c.338T=	ENSP00000398720.2:p.Ile113=
ENST00000506910.5:c.179T=	ENSP00000423066.1:p.Ile60=
ENST00000508330.5:c.*171T=	ENSP00000425741.1:n.*171T=
ENST00000509512.1:n.191T=
ENST00000510835.5:c.*304T=	ENSP00000427699.1:n.*304T=
ENST00000510901.5:c.179T=	ENSP00000422418.1:p.Ile60=
ENST00000511499.5:n.326T=
ENST00000514584.5:c.179T=	ENSP00000423110.1:p.Ile60=
ENST00000541923.5:c.179T=	ENSP00000438017.1:p.Ile60=
ENST00000542498.5:c.422-1177T=	ENSP00000443644.1:n.422-1177T=
NM_000860.5:c.542T=	NP_000851.2:p.Ile181=
NM_001145816.2:c.499-1177T=	NP_001139288.1:n.499-1177T=
NM_001256301.1:c.179T=	NP_001243230.1:p.Ile60=
NM_001256305.1:c.422-1177T=	NP_001243234.1:n.422-1177T=
NM_001256306.1:c.338T=	NP_001243235.1:p.Ile113=
NM_001256307.1:c.179T=	NP_001243236.1:p.Ile60=
NM_000860.6:c.542T= MANE Select	NP_000851.2:p.Ile181=
NM_001145816.3:c.499-1177T=	NP_001139288.1:n.499-1177T=
NM_001256305.2:c.422-1177T=	NP_001243234.1:n.422-1177T=
NM_001256306.2:c.338T=	NP_001243235.1:p.Ile113=
NM_001256307.2:c.179T=	NP_001243236.1:p.Ile60=