Canonical Allele Identifier: CA1432859286

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662220G= , CM000666.2:g.662220G=	GRCh38
NC_000004.11:g.656009G= , CM000666.1:g.656009G=	GRCh37
NC_000004.10:g.646009G=	NCBI36
NG_009839.1:g.41647G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1701G= MANE Select	ENSP00000420295.1:p.Gln567=
ENST00000255622.10:c.1701G=	ENSP00000255622.6:p.Gln567=
ENST00000429163.6:c.864G=	ENSP00000406334.2:p.Gln288=
ENST00000496514.5:c.1701G=	ENSP00000420295.1:p.Gln567=
NM_000283.3:c.1701G=	NP_000274.2:p.Gln567=
NM_001145291.1:c.1701G=	NP_001138763.1:p.Gln567=
NM_001145292.1:c.864G=	NP_001138764.1:p.Gln288=
XM_011513473.1:c.1920G=	XP_011511775.1:p.Gln640=
XM_011513474.1:c.1920G=	XP_011511776.1:p.Gln640=
XM_011513475.1:c.1701G=	XP_011511777.1:p.Gln567=
XM_011513476.1:c.1920G=	XP_011511778.1:p.Gln640=
XM_011513477.1:c.906G=	XP_011511779.1:p.Gln302=
XM_011513478.1:c.630G=	XP_011511780.1:p.Gln210=
XR_925029.1:n.323C=
NM_001350154.1:c.864G=	NP_001337083.1:p.Gln288=
NM_001350155.1:c.546G=	NP_001337084.1:p.Gln182=
XM_011513473.3:c.1920G=	XP_011511775.1:p.Gln640=
XM_011513474.3:c.1920G=	XP_011511776.1:p.Gln640=
XM_011513475.2:c.1701G=	XP_011511777.1:p.Gln567=
XM_011513476.3:c.1920G=	XP_011511778.1:p.Gln640=
XM_011513478.2:c.630G=	XP_011511780.1:p.Gln210=
XM_017008284.1:c.864G=	XP_016863773.1:p.Gln288=
XM_017008285.1:c.864G=	XP_016863774.1:p.Gln288=
XM_017008286.1:c.864G=	XP_016863775.1:p.Gln288=
NM_001350154.2:c.864G=	NP_001337083.1:p.Gln288=
NM_001350155.2:c.546G=	NP_001337084.1:p.Gln182=
NM_000283.4:c.1701G= MANE Select	NP_000274.3:p.Gln567=
NM_001145291.2:c.1701G=	NP_001138763.2:p.Gln567=
NM_001145292.2:c.864G=	NP_001138764.2:p.Gln288=
NM_001350154.3:c.864G=	NP_001337083.1:p.Gln288=
NM_001350155.3:c.546G=	NP_001337084.1:p.Gln182=
NM_001379246.1:c.864G=	NP_001366175.1:p.Gln288=
NM_001379247.1:c.864G=	NP_001366176.1:p.Gln288=