Canonical Allele Identifier: CA1432844684

Gene: PDE6B PDE6B-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.653944C= , CM000666.2:g.653944C=	GRCh38
NC_000004.11:g.647733C= , CM000666.1:g.647733C=	GRCh37
NC_000004.10:g.637733C=	NCBI36
NG_009839.1:g.33371C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.804C= (PDE6B) MANE Select	ENSP00000420295.1:p.Leu268=
ENST00000255622.10:c.804C= (PDE6B)	ENSP00000255622.6:p.Leu268=
ENST00000429163.6:c.-34C= (PDE6B)	ENSP00000406334.2:n.-34C=
ENST00000465426.5:c.-34C= (PDE6B)	ENSP00000418454.1:n.-34C=
ENST00000467152.1:n.202C= (PDE6B)
ENST00000474251.5:n.255C= (PDE6B)
ENST00000476034.5:n.374C= (PDE6B)
ENST00000487902.5:c.-34C= (PDE6B)	ENSP00000418256.1:n.-34C=
ENST00000488061.5:c.-34C= (PDE6B)	ENSP00000420228.1:n.-34C=
ENST00000496514.5:c.804C= (PDE6B)	ENSP00000420295.1:p.Leu268=
NM_000283.3:c.804C= (PDE6B)	NP_000274.2:p.Leu268=
NM_001145291.1:c.804C= (PDE6B)	NP_001138763.1:p.Leu268=
NM_001145292.1:c.-34C= (PDE6B)	NP_001138764.1:n.-34C=
XM_011513473.1:c.1023C= (PDE6B)	XP_011511775.1:p.Leu341=
XM_011513474.1:c.1023C= (PDE6B)	XP_011511776.1:p.Leu341=
XM_011513475.1:c.804C= (PDE6B)	XP_011511777.1:p.Leu268=
XM_011513476.1:c.1023C= (PDE6B)	XP_011511778.1:p.Leu341=
XM_011513477.1:c.-594C= (PDE6B)	XP_011511779.1:n.-594C=
XM_011513478.1:c.-937C= (PDE6B)	XP_011511780.1:n.-937C=
XR_246615.2:n.1042G= (PDE6B-AS1)
XR_925030.1:n.893G= (PDE6B-AS1)
NM_001350154.1:c.-34C= (PDE6B)	NP_001337083.1:n.-34C=
NM_001350155.1:c.-237C= (PDE6B)	NP_001337084.1:n.-237C=
XM_011513473.3:c.1023C= (PDE6B)	XP_011511775.1:p.Leu341=
XM_011513474.3:c.1023C= (PDE6B)	XP_011511776.1:p.Leu341=
XM_011513475.2:c.804C= (PDE6B)	XP_011511777.1:p.Leu268=
XM_011513476.3:c.1023C= (PDE6B)	XP_011511778.1:p.Leu341=
XM_011513478.2:c.-937C= (PDE6B)	XP_011511780.1:n.-937C=
XM_017008284.1:c.-34C= (PDE6B)	XP_016863773.1:n.-34C=
XM_017008285.1:c.-34C= (PDE6B)	XP_016863774.1:n.-34C=
XM_017008286.1:c.-34C= (PDE6B)	XP_016863775.1:n.-34C=
XR_001741541.1:n.1135G= (PDE6B-AS1)
XR_246615.3:n.1284G= (PDE6B-AS1)
NM_001350154.2:c.-34C= (PDE6B)	NP_001337083.1:n.-34C=
NM_001350155.2:c.-237C= (PDE6B)	NP_001337084.1:n.-237C=
NM_000283.4:c.804C= (PDE6B) MANE Select	NP_000274.3:p.Leu268=
NM_001145291.2:c.804C= (PDE6B)	NP_001138763.2:p.Leu268=
NM_001145292.2:c.-34C= (PDE6B)	NP_001138764.2:n.-34C=
NM_001350154.3:c.-34C= (PDE6B)	NP_001337083.1:n.-34C=
NM_001350155.3:c.-237C= (PDE6B)	NP_001337084.1:n.-237C=
NM_001379246.1:c.-34C= (PDE6B)	NP_001366175.1:n.-34C=
NM_001379247.1:c.-34C= (PDE6B)	NP_001366176.1:n.-34C=