Canonical Allele Identifier: CA355911440

Gene: PDE6B PDE6B-AS1

Linked Data

• MyVariant Identifiers: chr4:g.647749T>G (hg19) ; chr4:g.653960T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.653960T>G , CM000666.2:g.653960T>G	GRCh38
NC_000004.11:g.647749T>G , CM000666.1:g.647749T>G	GRCh37
NC_000004.10:g.637749T>G	NCBI36
NG_009839.1:g.33387T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.820T>G (PDE6B) MANE Select	ENSP00000420295.1:p.Ser274Ala
ENST00000255622.10:c.820T>G (PDE6B)	ENSP00000255622.6:p.Ser274Ala
ENST00000429163.6:c.-18T>G (PDE6B)	ENSP00000406334.2:n.-18T>G
ENST00000465426.5:c.-18T>G (PDE6B)	ENSP00000418454.1:n.-18T>G
ENST00000467152.1:n.218T>G (PDE6B)
ENST00000474251.5:n.271T>G (PDE6B)
ENST00000476034.5:n.390T>G (PDE6B)
ENST00000487902.5:c.-18T>G (PDE6B)	ENSP00000418256.1:n.-18T>G
ENST00000488061.5:c.-18T>G (PDE6B)	ENSP00000420228.1:n.-18T>G
ENST00000496514.5:c.820T>G (PDE6B)	ENSP00000420295.1:p.Ser274Ala
NM_000283.3:c.820T>G (PDE6B)	NP_000274.2:p.Ser274Ala
NM_001145291.1:c.820T>G (PDE6B)	NP_001138763.1:p.Ser274Ala
NM_001145292.1:c.-18T>G (PDE6B)	NP_001138764.1:n.-18T>G
XM_011513473.1:c.1039T>G (PDE6B)	XP_011511775.1:p.Ser347Ala
XM_011513474.1:c.1039T>G (PDE6B)	XP_011511776.1:p.Ser347Ala
XM_011513475.1:c.820T>G (PDE6B)	XP_011511777.1:p.Ser274Ala
XM_011513476.1:c.1039T>G (PDE6B)	XP_011511778.1:p.Ser347Ala
XM_011513477.1:c.-578T>G (PDE6B)	XP_011511779.1:n.-578T>G
XM_011513478.1:c.-921T>G (PDE6B)	XP_011511780.1:n.-921T>G
XR_246615.2:n.1026A>C (PDE6B-AS1)
XR_925030.1:n.877A>C (PDE6B-AS1)
NM_001350154.1:c.-18T>G (PDE6B)	NP_001337083.1:n.-18T>G
NM_001350155.1:c.-221T>G (PDE6B)	NP_001337084.1:n.-221T>G
XM_011513473.3:c.1039T>G (PDE6B)	XP_011511775.1:p.Ser347Ala
XM_011513474.3:c.1039T>G (PDE6B)	XP_011511776.1:p.Ser347Ala
XM_011513475.2:c.820T>G (PDE6B)	XP_011511777.1:p.Ser274Ala
XM_011513476.3:c.1039T>G (PDE6B)	XP_011511778.1:p.Ser347Ala
XM_011513478.2:c.-921T>G (PDE6B)	XP_011511780.1:n.-921T>G
XM_017008284.1:c.-18T>G (PDE6B)	XP_016863773.1:n.-18T>G
XM_017008285.1:c.-18T>G (PDE6B)	XP_016863774.1:n.-18T>G
XM_017008286.1:c.-18T>G (PDE6B)	XP_016863775.1:n.-18T>G
XR_001741541.1:n.1119A>C (PDE6B-AS1)
XR_246615.3:n.1268A>C (PDE6B-AS1)
NM_001350154.2:c.-18T>G (PDE6B)	NP_001337083.1:n.-18T>G
NM_001350155.2:c.-221T>G (PDE6B)	NP_001337084.1:n.-221T>G
NM_000283.4:c.820T>G (PDE6B) MANE Select	NP_000274.3:p.Ser274Ala
NM_001145291.2:c.820T>G (PDE6B)	NP_001138763.2:p.Ser274Ala
NM_001145292.2:c.-18T>G (PDE6B)	NP_001138764.2:n.-18T>G
NM_001350154.3:c.-18T>G (PDE6B)	NP_001337083.1:n.-18T>G
NM_001350155.3:c.-221T>G (PDE6B)	NP_001337084.1:n.-221T>G
NM_001379246.1:c.-18T>G (PDE6B)	NP_001366175.1:n.-18T>G
NM_001379247.1:c.-18T>G (PDE6B)	NP_001366176.1:n.-18T>G