Canonical Allele Identifier: CA355911818

Gene: PDE6B PDE6B-AS1

Linked Data

• dbSNP Id: rs1279538484
• gnomAD v2: 4-647909-A-C
• gnomAD v4: 4-654120-A-C
• MyVariant Identifiers: chr4:g.647909A>C (hg19) ; chr4:g.654120A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654120A>C , CM000666.2:g.654120A>C	GRCh38
NC_000004.11:g.647909A>C , CM000666.1:g.647909A>C	GRCh37
NC_000004.10:g.637909A>C	NCBI36
NG_009839.1:g.33547A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.893A>C (PDE6B) MANE Select	ENSP00000420295.1:p.Gln298Pro
ENST00000255622.10:c.893A>C (PDE6B)	ENSP00000255622.6:p.Gln298Pro
ENST00000429163.6:c.56A>C (PDE6B)	ENSP00000406334.2:p.Gln19Pro
ENST00000465426.5:c.56A>C (PDE6B)	ENSP00000418454.1:p.Gln19Pro
ENST00000467152.1:n.291A>C (PDE6B)
ENST00000474251.5:n.344A>C (PDE6B)
ENST00000476034.5:n.463A>C (PDE6B)
ENST00000487902.5:c.56A>C (PDE6B)	ENSP00000418256.1:p.Gln19Pro
ENST00000496514.5:c.893A>C (PDE6B)	ENSP00000420295.1:p.Gln298Pro
NM_000283.3:c.893A>C (PDE6B)	NP_000274.2:p.Gln298Pro
NM_001145291.1:c.893A>C (PDE6B)	NP_001138763.1:p.Gln298Pro
NM_001145292.1:c.56A>C (PDE6B)	NP_001138764.1:p.Gln19Pro
XM_011513473.1:c.1112A>C (PDE6B)	XP_011511775.1:p.Gln371Pro
XM_011513474.1:c.1112A>C (PDE6B)	XP_011511776.1:p.Gln371Pro
XM_011513475.1:c.893A>C (PDE6B)	XP_011511777.1:p.Gln298Pro
XM_011513476.1:c.1112A>C (PDE6B)	XP_011511778.1:p.Gln371Pro
XM_011513477.1:c.-505A>C (PDE6B)	XP_011511779.1:n.-505A>C
XM_011513478.1:c.-848A>C (PDE6B)	XP_011511780.1:n.-848A>C
XR_246615.2:n.959T>G (PDE6B-AS1)
XR_925030.1:n.866-149T>G (PDE6B-AS1)
NM_001350154.1:c.56A>C (PDE6B)	NP_001337083.1:p.Gln19Pro
NM_001350155.1:c.-148A>C (PDE6B)	NP_001337084.1:n.-148A>C
XM_011513473.3:c.1112A>C (PDE6B)	XP_011511775.1:p.Gln371Pro
XM_011513474.3:c.1112A>C (PDE6B)	XP_011511776.1:p.Gln371Pro
XM_011513475.2:c.893A>C (PDE6B)	XP_011511777.1:p.Gln298Pro
XM_011513476.3:c.1112A>C (PDE6B)	XP_011511778.1:p.Gln371Pro
XM_011513478.2:c.-848A>C (PDE6B)	XP_011511780.1:n.-848A>C
XM_017008284.1:c.56A>C (PDE6B)	XP_016863773.1:p.Gln19Pro
XM_017008285.1:c.56A>C (PDE6B)	XP_016863774.1:p.Gln19Pro
XM_017008286.1:c.56A>C (PDE6B)	XP_016863775.1:p.Gln19Pro
XR_001741541.1:n.1108-149T>G (PDE6B-AS1)
XR_246615.3:n.1201T>G (PDE6B-AS1)
NM_001350154.2:c.56A>C (PDE6B)	NP_001337083.1:p.Gln19Pro
NM_001350155.2:c.-148A>C (PDE6B)	NP_001337084.1:n.-148A>C
NM_000283.4:c.893A>C (PDE6B) MANE Select	NP_000274.3:p.Gln298Pro
NM_001145291.2:c.893A>C (PDE6B)	NP_001138763.2:p.Gln298Pro
NM_001145292.2:c.56A>C (PDE6B)	NP_001138764.2:p.Gln19Pro
NM_001350154.3:c.56A>C (PDE6B)	NP_001337083.1:p.Gln19Pro
NM_001350155.3:c.-148A>C (PDE6B)	NP_001337084.1:n.-148A>C
NM_001379246.1:c.56A>C (PDE6B)	NP_001366175.1:p.Gln19Pro
NM_001379247.1:c.56A>C (PDE6B)	NP_001366176.1:p.Gln19Pro