Canonical Allele Identifier: CA1514295462
Gene: HPGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174508711T= , CM000666.2:g.174508711T= GRCh38
NC_000004.11:g.175429862T= , CM000666.1:g.175429862T= GRCh37
NC_000004.10:g.175666437T= NCBI36
NG_011689.1:g.18931A=

Transcript Alleles

HGVS Amino-acid change
ENST00000296522.11:c.406A= MANE Select ENSP00000296522.6:p.Met136=
ENST00000296521.11:c.406A= ENSP00000296521.7:p.Met136=
ENST00000296522.10:c.406A= ENSP00000296522.6:p.Met136=
ENST00000422112.6:c.218-13087A= ENSP00000398720.2:n.218-13087A=
ENST00000504433.1:c.406A= ENSP00000420892.1:p.Met136=
ENST00000506910.5:c.43A= ENSP00000423066.1:p.Met15=
ENST00000508330.5:c.*35A= ENSP00000425741.1:n.*35A=
ENST00000510835.5:c.*168A= ENSP00000427699.1:n.*168A=
ENST00000510901.5:c.43A= ENSP00000422418.1:p.Met15=
ENST00000512410.1:n.387A=
ENST00000514584.5:c.43A= ENSP00000423110.1:p.Met15=
ENST00000541923.5:c.43A= ENSP00000438017.1:p.Met15=
ENST00000542498.5:c.406A= ENSP00000443644.1:p.Met136=
NM_000860.5:c.406A= NP_000851.2:p.Met136=
NM_001145816.2:c.406A= NP_001139288.1:p.Met136=
NM_001256301.1:c.43A= NP_001243230.1:p.Met15=
NM_001256305.1:c.406A= NP_001243234.1:p.Met136=
NM_001256306.1:c.218-13087A= NP_001243235.1:n.218-13087A=
NM_001256307.1:c.43A= NP_001243236.1:p.Met15=
XM_011531907.1:c.406A= XP_011530209.1:p.Met136=
XR_938728.1:n.848A=
NM_001363574.1:c.406A= NP_001350503.1:p.Met136=
XR_938728.2:n.443A=
NM_000860.6:c.406A= MANE Select NP_000851.2:p.Met136=
NM_001363574.2:c.406A= NP_001350503.1:p.Met136=
NM_001145816.3:c.406A= NP_001139288.1:p.Met136=
NM_001256305.2:c.406A= NP_001243234.1:p.Met136=
NM_001256306.2:c.218-13087A= NP_001243235.1:n.218-13087A=
NM_001256307.2:c.43A= NP_001243236.1:p.Met15=