Canonical Allele Identifier: CA2794165

Gene: PDE6B PDE6B-AS1

Linked Data

• ClinVar Variation Id: 1919586
• ClinVar RCV Id: RCV002630332
• dbSNP Id: rs745739451
• ExAC: 4:647912 C / T
• gnomAD v2: 4-647912-C-T
• gnomAD v3: 4-654123-C-T
• gnomAD v4: 4-654123-C-T
• MyVariant Identifiers: chr4:g.647912C>T (hg19) ; chr4:g.654123C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654123C>T , CM000666.2:g.654123C>T	GRCh38
NC_000004.11:g.647912C>T , CM000666.1:g.647912C>T	GRCh37
NC_000004.10:g.637912C>T	NCBI36
NG_009839.1:g.33550C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.896C>T (PDE6B) MANE Select	ENSP00000420295.1:p.Pro299Leu
ENST00000255622.10:c.896C>T (PDE6B)	ENSP00000255622.6:p.Pro299Leu
ENST00000429163.6:c.59C>T (PDE6B)	ENSP00000406334.2:p.Pro20Leu
ENST00000465426.5:c.59C>T (PDE6B)	ENSP00000418454.1:p.Pro20Leu
ENST00000467152.1:n.294C>T (PDE6B)
ENST00000474251.5:n.347C>T (PDE6B)
ENST00000476034.5:n.466C>T (PDE6B)
ENST00000487902.5:c.59C>T (PDE6B)	ENSP00000418256.1:p.Pro20Leu
ENST00000496514.5:c.896C>T (PDE6B)	ENSP00000420295.1:p.Pro299Leu
NM_000283.3:c.896C>T (PDE6B)	NP_000274.2:p.Pro299Leu
NM_001145291.1:c.896C>T (PDE6B)	NP_001138763.1:p.Pro299Leu
NM_001145292.1:c.59C>T (PDE6B)	NP_001138764.1:p.Pro20Leu
XM_011513473.1:c.1115C>T (PDE6B)	XP_011511775.1:p.Pro372Leu
XM_011513474.1:c.1115C>T (PDE6B)	XP_011511776.1:p.Pro372Leu
XM_011513475.1:c.896C>T (PDE6B)	XP_011511777.1:p.Pro299Leu
XM_011513476.1:c.1115C>T (PDE6B)	XP_011511778.1:p.Pro372Leu
XM_011513477.1:c.-502C>T (PDE6B)	XP_011511779.1:n.-502C>T
XM_011513478.1:c.-845C>T (PDE6B)	XP_011511780.1:n.-845C>T
XR_246615.2:n.956G>A (PDE6B-AS1)
XR_925030.1:n.866-152G>A (PDE6B-AS1)
NM_001350154.1:c.59C>T (PDE6B)	NP_001337083.1:p.Pro20Leu
NM_001350155.1:c.-145C>T (PDE6B)	NP_001337084.1:n.-145C>T
XM_011513473.3:c.1115C>T (PDE6B)	XP_011511775.1:p.Pro372Leu
XM_011513474.3:c.1115C>T (PDE6B)	XP_011511776.1:p.Pro372Leu
XM_011513475.2:c.896C>T (PDE6B)	XP_011511777.1:p.Pro299Leu
XM_011513476.3:c.1115C>T (PDE6B)	XP_011511778.1:p.Pro372Leu
XM_011513478.2:c.-845C>T (PDE6B)	XP_011511780.1:n.-845C>T
XM_017008284.1:c.59C>T (PDE6B)	XP_016863773.1:p.Pro20Leu
XM_017008285.1:c.59C>T (PDE6B)	XP_016863774.1:p.Pro20Leu
XM_017008286.1:c.59C>T (PDE6B)	XP_016863775.1:p.Pro20Leu
XR_001741541.1:n.1108-152G>A (PDE6B-AS1)
XR_246615.3:n.1198G>A (PDE6B-AS1)
NM_001350154.2:c.59C>T (PDE6B)	NP_001337083.1:p.Pro20Leu
NM_001350155.2:c.-145C>T (PDE6B)	NP_001337084.1:n.-145C>T
NM_000283.4:c.896C>T (PDE6B) MANE Select	NP_000274.3:p.Pro299Leu
NM_001145291.2:c.896C>T (PDE6B)	NP_001138763.2:p.Pro299Leu
NM_001145292.2:c.59C>T (PDE6B)	NP_001138764.2:p.Pro20Leu
NM_001350154.3:c.59C>T (PDE6B)	NP_001337083.1:p.Pro20Leu
NM_001350155.3:c.-145C>T (PDE6B)	NP_001337084.1:n.-145C>T
NM_001379246.1:c.59C>T (PDE6B)	NP_001366175.1:p.Pro20Leu
NM_001379247.1:c.59C>T (PDE6B)	NP_001366176.1:p.Pro20Leu