Canonical Allele Identifier: CA355910816

Gene: PDE6B PDE6B-AS1

Linked Data

• MyVariant Identifiers: chr4:g.647720T>C (hg19) ; chr4:g.653931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.653931T>C , CM000666.2:g.653931T>C	GRCh38
NC_000004.11:g.647720T>C , CM000666.1:g.647720T>C	GRCh37
NC_000004.10:g.637720T>C	NCBI36
NG_009839.1:g.33358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.791T>C (PDE6B) MANE Select	ENSP00000420295.1:p.Val264Ala
ENST00000255622.10:c.791T>C (PDE6B)	ENSP00000255622.6:p.Val264Ala
ENST00000429163.6:c.-47T>C (PDE6B)	ENSP00000406334.2:n.-47T>C
ENST00000465426.5:c.-47T>C (PDE6B)	ENSP00000418454.1:n.-47T>C
ENST00000467152.1:n.189T>C (PDE6B)
ENST00000474251.5:n.242T>C (PDE6B)
ENST00000476034.5:n.361T>C (PDE6B)
ENST00000487902.5:c.-47T>C (PDE6B)	ENSP00000418256.1:n.-47T>C
ENST00000488061.5:c.-47T>C (PDE6B)	ENSP00000420228.1:n.-47T>C
ENST00000496514.5:c.791T>C (PDE6B)	ENSP00000420295.1:p.Val264Ala
NM_000283.3:c.791T>C (PDE6B)	NP_000274.2:p.Val264Ala
NM_001145291.1:c.791T>C (PDE6B)	NP_001138763.1:p.Val264Ala
NM_001145292.1:c.-47T>C (PDE6B)	NP_001138764.1:n.-47T>C
XM_011513473.1:c.1010T>C (PDE6B)	XP_011511775.1:p.Val337Ala
XM_011513474.1:c.1010T>C (PDE6B)	XP_011511776.1:p.Val337Ala
XM_011513475.1:c.791T>C (PDE6B)	XP_011511777.1:p.Val264Ala
XM_011513476.1:c.1010T>C (PDE6B)	XP_011511778.1:p.Val337Ala
XM_011513477.1:c.-607T>C (PDE6B)	XP_011511779.1:n.-607T>C
XM_011513478.1:c.-950T>C (PDE6B)	XP_011511780.1:n.-950T>C
XR_246615.2:n.1055A>G (PDE6B-AS1)
XR_925030.1:n.906A>G (PDE6B-AS1)
NM_001350154.1:c.-47T>C (PDE6B)	NP_001337083.1:n.-47T>C
NM_001350155.1:c.-250T>C (PDE6B)	NP_001337084.1:n.-250T>C
XM_011513473.3:c.1010T>C (PDE6B)	XP_011511775.1:p.Val337Ala
XM_011513474.3:c.1010T>C (PDE6B)	XP_011511776.1:p.Val337Ala
XM_011513475.2:c.791T>C (PDE6B)	XP_011511777.1:p.Val264Ala
XM_011513476.3:c.1010T>C (PDE6B)	XP_011511778.1:p.Val337Ala
XM_011513478.2:c.-950T>C (PDE6B)	XP_011511780.1:n.-950T>C
XM_017008284.1:c.-47T>C (PDE6B)	XP_016863773.1:n.-47T>C
XM_017008285.1:c.-47T>C (PDE6B)	XP_016863774.1:n.-47T>C
XM_017008286.1:c.-47T>C (PDE6B)	XP_016863775.1:n.-47T>C
XR_001741541.1:n.1148A>G (PDE6B-AS1)
XR_246615.3:n.1297A>G (PDE6B-AS1)
NM_001350154.2:c.-47T>C (PDE6B)	NP_001337083.1:n.-47T>C
NM_001350155.2:c.-250T>C (PDE6B)	NP_001337084.1:n.-250T>C
NM_000283.4:c.791T>C (PDE6B) MANE Select	NP_000274.3:p.Val264Ala
NM_001145291.2:c.791T>C (PDE6B)	NP_001138763.2:p.Val264Ala
NM_001145292.2:c.-47T>C (PDE6B)	NP_001138764.2:n.-47T>C
NM_001350154.3:c.-47T>C (PDE6B)	NP_001337083.1:n.-47T>C
NM_001350155.3:c.-250T>C (PDE6B)	NP_001337084.1:n.-250T>C
NM_001379246.1:c.-47T>C (PDE6B)	NP_001366175.1:n.-47T>C
NM_001379247.1:c.-47T>C (PDE6B)	NP_001366176.1:n.-47T>C