Canonical Allele Identifier: CA2794148

Gene: PDE6B PDE6B-AS1

Linked Data

• dbSNP Id: rs374784891
• ExAC: 4:647808 C / G
• gnomAD v2: 4-647808-C-G
• gnomAD v3: 4-654019-C-G
• gnomAD v4: 4-654019-C-G
• MyVariant Identifiers: chr4:g.647808C>G (hg19) ; chr4:g.654019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.654019C>G , CM000666.2:g.654019C>G	GRCh38
NC_000004.11:g.647808C>G , CM000666.1:g.647808C>G	GRCh37
NC_000004.10:g.637808C>G	NCBI36
NG_009839.1:g.33446C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496514.6:c.852+27C>G (PDE6B) MANE Select	ENSP00000420295.1:n.852+27C>G
ENST00000255622.10:c.852+27C>G (PDE6B)	ENSP00000255622.6:n.852+27C>G
ENST00000429163.6:c.15+27C>G (PDE6B)	ENSP00000406334.2:n.15+27C>G
ENST00000465426.5:c.15+27C>G (PDE6B)	ENSP00000418454.1:n.15+27C>G
ENST00000467152.1:n.250+27C>G (PDE6B)
ENST00000474251.5:n.303+27C>G (PDE6B)
ENST00000476034.5:n.422+27C>G (PDE6B)
ENST00000487902.5:c.15+27C>G (PDE6B)	ENSP00000418256.1:n.15+27C>G
ENST00000488061.5:c.15+27C>G (PDE6B)	ENSP00000420228.1:n.15+27C>G
ENST00000496514.5:c.852+27C>G (PDE6B)	ENSP00000420295.1:n.852+27C>G
NM_000283.3:c.852+27C>G (PDE6B)	NP_000274.2:n.852+27C>G
NM_001145291.1:c.852+27C>G (PDE6B)	NP_001138763.1:n.852+27C>G
NM_001145292.1:c.15+27C>G (PDE6B)	NP_001138764.1:n.15+27C>G
XM_011513473.1:c.1071+27C>G (PDE6B)	XP_011511775.1:n.1071+27C>G
XM_011513474.1:c.1071+27C>G (PDE6B)	XP_011511776.1:n.1071+27C>G
XM_011513475.1:c.852+27C>G (PDE6B)	XP_011511777.1:n.852+27C>G
XM_011513476.1:c.1071+27C>G (PDE6B)	XP_011511778.1:n.1071+27C>G
XM_011513477.1:c.-546+27C>G (PDE6B)	XP_011511779.1:n.-546+27C>G
XM_011513478.1:c.-889+27C>G (PDE6B)	XP_011511780.1:n.-889+27C>G
XR_246615.2:n.1014+46G>C (PDE6B-AS1)
XR_925030.1:n.866-48G>C (PDE6B-AS1)
NM_001350154.1:c.15+27C>G (PDE6B)	NP_001337083.1:n.15+27C>G
NM_001350155.1:c.-189+27C>G (PDE6B)	NP_001337084.1:n.-189+27C>G
XM_011513473.3:c.1071+27C>G (PDE6B)	XP_011511775.1:n.1071+27C>G
XM_011513474.3:c.1071+27C>G (PDE6B)	XP_011511776.1:n.1071+27C>G
XM_011513475.2:c.852+27C>G (PDE6B)	XP_011511777.1:n.852+27C>G
XM_011513476.3:c.1071+27C>G (PDE6B)	XP_011511778.1:n.1071+27C>G
XM_011513478.2:c.-889+27C>G (PDE6B)	XP_011511780.1:n.-889+27C>G
XM_017008284.1:c.15+27C>G (PDE6B)	XP_016863773.1:n.15+27C>G
XM_017008285.1:c.15+27C>G (PDE6B)	XP_016863774.1:n.15+27C>G
XM_017008286.1:c.15+27C>G (PDE6B)	XP_016863775.1:n.15+27C>G
XR_001741541.1:n.1108-48G>C (PDE6B-AS1)
XR_246615.3:n.1256+46G>C (PDE6B-AS1)
NM_001350154.2:c.15+27C>G (PDE6B)	NP_001337083.1:n.15+27C>G
NM_001350155.2:c.-189+27C>G (PDE6B)	NP_001337084.1:n.-189+27C>G
NM_000283.4:c.852+27C>G (PDE6B) MANE Select	NP_000274.3:n.852+27C>G
NM_001145291.2:c.852+27C>G (PDE6B)	NP_001138763.2:n.852+27C>G
NM_001145292.2:c.15+27C>G (PDE6B)	NP_001138764.2:n.15+27C>G
NM_001350154.3:c.15+27C>G (PDE6B)	NP_001337083.1:n.15+27C>G
NM_001350155.3:c.-189+27C>G (PDE6B)	NP_001337084.1:n.-189+27C>G
NM_001379246.1:c.15+27C>G (PDE6B)	NP_001366175.1:n.15+27C>G
NM_001379247.1:c.15+27C>G (PDE6B)	NP_001366176.1:n.15+27C>G