Canonical Allele Identifier: CA2794149

Gene: PDE6B PDE6B-AS1

Linked Data

• dbSNP Id: rs745634100
• ExAC: 4:647815 G / T
• gnomAD v2: 4-647815-G-T
• gnomAD v4: 4-654026-G-T
• MyVariant Identifiers: chr4:g.647815G>T (hg19) ; chr4:g.654026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654026G>T , CM000666.2:g.654026G>T	GRCh38
NC_000004.11:g.647815G>T , CM000666.1:g.647815G>T	GRCh37
NC_000004.10:g.637815G>T	NCBI36
NG_009839.1:g.33453G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.852+34G>T (PDE6B) MANE Select	ENSP00000420295.1:n.852+34G>T
ENST00000255622.10:c.852+34G>T (PDE6B)	ENSP00000255622.6:n.852+34G>T
ENST00000429163.6:c.15+34G>T (PDE6B)	ENSP00000406334.2:n.15+34G>T
ENST00000465426.5:c.15+34G>T (PDE6B)	ENSP00000418454.1:n.15+34G>T
ENST00000467152.1:n.250+34G>T (PDE6B)
ENST00000474251.5:n.303+34G>T (PDE6B)
ENST00000476034.5:n.422+34G>T (PDE6B)
ENST00000487902.5:c.15+34G>T (PDE6B)	ENSP00000418256.1:n.15+34G>T
ENST00000488061.5:c.15+34G>T (PDE6B)	ENSP00000420228.1:n.15+34G>T
ENST00000496514.5:c.852+34G>T (PDE6B)	ENSP00000420295.1:n.852+34G>T
NM_000283.3:c.852+34G>T (PDE6B)	NP_000274.2:n.852+34G>T
NM_001145291.1:c.852+34G>T (PDE6B)	NP_001138763.1:n.852+34G>T
NM_001145292.1:c.15+34G>T (PDE6B)	NP_001138764.1:n.15+34G>T
XM_011513473.1:c.1071+34G>T (PDE6B)	XP_011511775.1:n.1071+34G>T
XM_011513474.1:c.1071+34G>T (PDE6B)	XP_011511776.1:n.1071+34G>T
XM_011513475.1:c.852+34G>T (PDE6B)	XP_011511777.1:n.852+34G>T
XM_011513476.1:c.1071+34G>T (PDE6B)	XP_011511778.1:n.1071+34G>T
XM_011513477.1:c.-546+34G>T (PDE6B)	XP_011511779.1:n.-546+34G>T
XM_011513478.1:c.-889+34G>T (PDE6B)	XP_011511780.1:n.-889+34G>T
XR_246615.2:n.1014+39C>A (PDE6B-AS1)
XR_925030.1:n.866-55C>A (PDE6B-AS1)
NM_001350154.1:c.15+34G>T (PDE6B)	NP_001337083.1:n.15+34G>T
NM_001350155.1:c.-189+34G>T (PDE6B)	NP_001337084.1:n.-189+34G>T
XM_011513473.3:c.1071+34G>T (PDE6B)	XP_011511775.1:n.1071+34G>T
XM_011513474.3:c.1071+34G>T (PDE6B)	XP_011511776.1:n.1071+34G>T
XM_011513475.2:c.852+34G>T (PDE6B)	XP_011511777.1:n.852+34G>T
XM_011513476.3:c.1071+34G>T (PDE6B)	XP_011511778.1:n.1071+34G>T
XM_011513478.2:c.-889+34G>T (PDE6B)	XP_011511780.1:n.-889+34G>T
XM_017008284.1:c.15+34G>T (PDE6B)	XP_016863773.1:n.15+34G>T
XM_017008285.1:c.15+34G>T (PDE6B)	XP_016863774.1:n.15+34G>T
XM_017008286.1:c.15+34G>T (PDE6B)	XP_016863775.1:n.15+34G>T
XR_001741541.1:n.1108-55C>A (PDE6B-AS1)
XR_246615.3:n.1256+39C>A (PDE6B-AS1)
NM_001350154.2:c.15+34G>T (PDE6B)	NP_001337083.1:n.15+34G>T
NM_001350155.2:c.-189+34G>T (PDE6B)	NP_001337084.1:n.-189+34G>T
NM_000283.4:c.852+34G>T (PDE6B) MANE Select	NP_000274.3:n.852+34G>T
NM_001145291.2:c.852+34G>T (PDE6B)	NP_001138763.2:n.852+34G>T
NM_001145292.2:c.15+34G>T (PDE6B)	NP_001138764.2:n.15+34G>T
NM_001350154.3:c.15+34G>T (PDE6B)	NP_001337083.1:n.15+34G>T
NM_001350155.3:c.-189+34G>T (PDE6B)	NP_001337084.1:n.-189+34G>T
NM_001379246.1:c.15+34G>T (PDE6B)	NP_001366175.1:n.15+34G>T
NM_001379247.1:c.15+34G>T (PDE6B)	NP_001366176.1:n.15+34G>T