Canonical Allele Identifier: CA1432855137
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.660497G= , CM000666.2:g.660497G= GRCh38
NC_000004.11:g.654286G= , CM000666.1:g.654286G= GRCh37
NC_000004.10:g.644286G= NCBI36
NG_009839.1:g.39924G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496514.6:c.1498G= MANE Select ENSP00000420295.1:p.Asp500=
ENST00000255622.10:c.1498G= ENSP00000255622.6:p.Asp500=
ENST00000429163.6:c.661G= ENSP00000406334.2:p.Asp221=
ENST00000496514.5:c.1498G= ENSP00000420295.1:p.Asp500=
NM_000283.3:c.1498G= NP_000274.2:p.Asp500=
NM_001145291.1:c.1498G= NP_001138763.1:p.Asp500=
NM_001145292.1:c.661G= NP_001138764.1:p.Asp221=
XM_011513473.1:c.1717G= XP_011511775.1:p.Asp573=
XM_011513474.1:c.1717G= XP_011511776.1:p.Asp573=
XM_011513475.1:c.1498G= XP_011511777.1:p.Asp500=
XM_011513476.1:c.1717G= XP_011511778.1:p.Asp573=
XM_011513477.1:c.703G= XP_011511779.1:p.Asp235=
XM_011513478.1:c.427G= XP_011511780.1:p.Asp143=
NM_001350154.1:c.661G= NP_001337083.1:p.Asp221=
NM_001350155.1:c.343G= NP_001337084.1:p.Asp115=
XM_011513473.3:c.1717G= XP_011511775.1:p.Asp573=
XM_011513474.3:c.1717G= XP_011511776.1:p.Asp573=
XM_011513475.2:c.1498G= XP_011511777.1:p.Asp500=
XM_011513476.3:c.1717G= XP_011511778.1:p.Asp573=
XM_011513478.2:c.427G= XP_011511780.1:p.Asp143=
XM_017008284.1:c.661G= XP_016863773.1:p.Asp221=
XM_017008285.1:c.661G= XP_016863774.1:p.Asp221=
XM_017008286.1:c.661G= XP_016863775.1:p.Asp221=
NM_001350154.2:c.661G= NP_001337083.1:p.Asp221=
NM_001350155.2:c.343G= NP_001337084.1:p.Asp115=
NM_000283.4:c.1498G= MANE Select NP_000274.3:p.Asp500=
NM_001145291.2:c.1498G= NP_001138763.2:p.Asp500=
NM_001145292.2:c.661G= NP_001138764.2:p.Asp221=
NM_001350154.3:c.661G= NP_001337083.1:p.Asp221=
NM_001350155.3:c.343G= NP_001337084.1:p.Asp115=
NM_001379246.1:c.661G= NP_001366175.1:p.Asp221=
NM_001379247.1:c.661G= NP_001366176.1:p.Asp221=