Canonical Allele Identifier: CA1514328856
Gene: HPGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493321A= , CM000666.2:g.174493321A= GRCh38
NC_000004.11:g.175414472A= , CM000666.1:g.175414472A= GRCh37
NC_000004.10:g.175651047A= NCBI36
NG_011689.1:g.34321T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.499-7T= MANE Select ENSP00000296522.6:n.499-7T=
ENST00000296521.11:c.499-1227T= ENSP00000296521.7:n.499-1227T=
ENST00000296522.10:c.499-7T= ENSP00000296522.6:n.499-7T=
ENST00000422112.6:c.295-7T= ENSP00000398720.2:n.295-7T=
ENST00000506910.5:c.136-7T= ENSP00000423066.1:n.136-7T=
ENST00000508330.5:c.*128-7T= ENSP00000425741.1:n.*128-7T=
ENST00000509512.1:n.141T=
ENST00000510835.5:c.*261-7T= ENSP00000427699.1:n.*261-7T=
ENST00000510901.5:c.136-7T= ENSP00000422418.1:n.136-7T=
ENST00000511499.5:n.283-7T=
ENST00000514584.5:c.136-7T= ENSP00000423110.1:n.136-7T=
ENST00000541923.5:c.136-7T= ENSP00000438017.1:n.136-7T=
ENST00000542498.5:c.422-1227T= ENSP00000443644.1:n.422-1227T=
NM_000860.5:c.499-7T= NP_000851.2:n.499-7T=
NM_001145816.2:c.499-1227T= NP_001139288.1:n.499-1227T=
NM_001256301.1:c.136-7T= NP_001243230.1:n.136-7T=
NM_001256305.1:c.422-1227T= NP_001243234.1:n.422-1227T=
NM_001256306.1:c.295-7T= NP_001243235.1:n.295-7T=
NM_001256307.1:c.136-7T= NP_001243236.1:n.136-7T=
NM_000860.6:c.499-7T= MANE Select NP_000851.2:n.499-7T=
NM_001145816.3:c.499-1227T= NP_001139288.1:n.499-1227T=
NM_001256305.2:c.422-1227T= NP_001243234.1:n.422-1227T=
NM_001256306.2:c.295-7T= NP_001243235.1:n.295-7T=
NM_001256307.2:c.136-7T= NP_001243236.1:n.136-7T=