Canonical Allele Identifier: CA2794239

Gene: PDE6B PDE6B-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654863G>A , CM000666.2:g.654863G>A	GRCh38
NC_000004.11:g.648652G>A , CM000666.1:g.648652G>A	GRCh37
NC_000004.10:g.638652G>A	NCBI36
NG_009839.1:g.34290G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.4:c.967G>A (PDE6B) MANE Select	NP_000274.3:p.Gly323Ser
ENST00000496514.6:c.967G>A (PDE6B) MANE Select	ENSP00000420295.1:p.Gly323Ser
NM_000283.3:c.967G>A (PDE6B)	NP_000274.2:p.Gly323Ser
NM_001145291.1:c.967G>A (PDE6B)	NP_001138763.1:p.Gly323Ser
NM_001145291.2:c.967G>A (PDE6B)	NP_001138763.2:p.Gly323Ser
NM_001145292.1:c.130G>A (PDE6B)	NP_001138764.1:p.Gly44Ser
NM_001145292.2:c.130G>A (PDE6B)	NP_001138764.2:p.Gly44Ser
NM_001350154.1:c.130G>A (PDE6B)	NP_001337083.1:p.Gly44Ser
NM_001350154.2:c.130G>A (PDE6B)	NP_001337083.1:p.Gly44Ser
NM_001350154.3:c.130G>A (PDE6B)	NP_001337083.1:p.Gly44Ser
NM_001350155.1:c.-74G>A (PDE6B)	NP_001337084.1:n.-74G>A
NM_001350155.2:c.-74G>A (PDE6B)	NP_001337084.1:n.-74G>A
NM_001350155.3:c.-74G>A (PDE6B)	NP_001337084.1:n.-74G>A
NM_001379246.1:c.130G>A (PDE6B)	NP_001366175.1:p.Gly44Ser
NM_001379247.1:c.130G>A (PDE6B)	NP_001366176.1:p.Gly44Ser
ENST00000255622.10:c.967G>A (PDE6B)	ENSP00000255622.6:p.Gly323Ser
ENST00000429163.6:c.130G>A (PDE6B)	ENSP00000406334.2:p.Gly44Ser
ENST00000487902.5:c.130G>A (PDE6B)	ENSP00000418256.1:p.Gly44Ser
ENST00000496514.5:c.967G>A (PDE6B)	ENSP00000420295.1:p.Gly323Ser
XM_011513473.1:c.1186G>A (PDE6B)	XP_011511775.1:p.Gly396Ser
XM_011513473.3:c.1186G>A (PDE6B)	XP_011511775.1:p.Gly396Ser
XM_011513474.1:c.1186G>A (PDE6B)	XP_011511776.1:p.Gly396Ser
XM_011513474.3:c.1186G>A (PDE6B)	XP_011511776.1:p.Gly396Ser
XM_011513475.1:c.967G>A (PDE6B)	XP_011511777.1:p.Gly323Ser
XM_011513475.2:c.967G>A (PDE6B)	XP_011511777.1:p.Gly323Ser
XM_011513476.1:c.1186G>A (PDE6B)	XP_011511778.1:p.Gly396Ser
XM_011513476.3:c.1186G>A (PDE6B)	XP_011511778.1:p.Gly396Ser
XM_011513477.1:c.239G>A (PDE6B)	XP_011511779.1:p.Arg80Gln
XM_011513478.1:c.-105G>A (PDE6B)	XP_011511780.1:n.-105G>A
XM_011513478.2:c.-105G>A (PDE6B)	XP_011511780.1:n.-105G>A
XM_017008284.1:c.130G>A (PDE6B)	XP_016863773.1:p.Gly44Ser
XM_017008285.1:c.130G>A (PDE6B)	XP_016863774.1:p.Gly44Ser
XM_017008286.1:c.130G>A (PDE6B)	XP_016863775.1:p.Gly44Ser
XR_001741541.1:n.1107+219C>T (PDE6B-AS1)
XR_246615.2:n.865+219C>T (PDE6B-AS1)
XR_246615.3:n.1107+219C>T (PDE6B-AS1)
XR_925030.1:n.865+219C>T (PDE6B-AS1)