Canonical Allele Identifier: CA270012

Gene: PDE6B PDE6B-AS1

Linked Data

• ClinVar Variation Id: 143068
• ClinVar RCV Id: RCV000132577 ; RCV003888539
• dbSNP Id: rs527236090
• gnomAD v4: 4-655939-G-C
• MyVariant Identifiers: chr4:g.649728G>C (hg19) ; chr4:g.655939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.655939G>C , CM000666.2:g.655939G>C	GRCh38
NC_000004.11:g.649728G>C , CM000666.1:g.649728G>C	GRCh37
NC_000004.10:g.639728G>C	NCBI36
NG_009839.1:g.35366G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.993-1G>C (PDE6B) MANE Select	ENSP00000420295.1:n.993-1G>C
ENST00000255622.10:c.993-1G>C (PDE6B)	ENSP00000255622.6:n.993-1G>C
ENST00000429163.6:c.156-1G>C (PDE6B)	ENSP00000406334.2:n.156-1G>C
ENST00000487902.5:c.156-1G>C (PDE6B)	ENSP00000418256.1:n.156-1G>C
ENST00000496514.5:c.993-1G>C (PDE6B)	ENSP00000420295.1:n.993-1G>C
NM_000283.3:c.993-1G>C (PDE6B)	NP_000274.2:n.993-1G>C
NM_001145291.1:c.993-1G>C (PDE6B)	NP_001138763.1:n.993-1G>C
NM_001145292.1:c.156-1G>C (PDE6B)	NP_001138764.1:n.156-1G>C
XM_011513473.1:c.1212-1G>C (PDE6B)	XP_011511775.1:n.1212-1G>C
XM_011513474.1:c.1212-1G>C (PDE6B)	XP_011511776.1:n.1212-1G>C
XM_011513475.1:c.993-1G>C (PDE6B)	XP_011511777.1:n.993-1G>C
XM_011513476.1:c.1212-1G>C (PDE6B)	XP_011511778.1:n.1212-1G>C
XM_011513477.1:c.265-306G>C (PDE6B)	XP_011511779.1:n.265-306G>C
XM_011513478.1:c.-79-1G>C (PDE6B)	XP_011511780.1:n.-79-1G>C
XR_246615.2:n.8C>G (PDE6B-AS1)
XR_925030.1:n.8C>G (PDE6B-AS1)
NM_001350154.1:c.156-1G>C (PDE6B)	NP_001337083.1:n.156-1G>C
NM_001350155.1:c.-48-935G>C (PDE6B)	NP_001337084.1:n.-48-935G>C
XM_011513473.3:c.1212-1G>C (PDE6B)	XP_011511775.1:n.1212-1G>C
XM_011513474.3:c.1212-1G>C (PDE6B)	XP_011511776.1:n.1212-1G>C
XM_011513475.2:c.993-1G>C (PDE6B)	XP_011511777.1:n.993-1G>C
XM_011513476.3:c.1212-1G>C (PDE6B)	XP_011511778.1:n.1212-1G>C
XM_011513478.2:c.-79-1G>C (PDE6B)	XP_011511780.1:n.-79-1G>C
XM_017008284.1:c.156-1G>C (PDE6B)	XP_016863773.1:n.156-1G>C
XM_017008285.1:c.156-1G>C (PDE6B)	XP_016863774.1:n.156-1G>C
XM_017008286.1:c.156-1G>C (PDE6B)	XP_016863775.1:n.156-1G>C
XR_001741541.1:n.250C>G (PDE6B-AS1)
XR_246615.3:n.250C>G (PDE6B-AS1)
NM_001350154.2:c.156-1G>C (PDE6B)	NP_001337083.1:n.156-1G>C
NM_001350155.2:c.-48-935G>C (PDE6B)	NP_001337084.1:n.-48-935G>C
NM_000283.4:c.993-1G>C (PDE6B) MANE Select	NP_000274.3:n.993-1G>C
NM_001145291.2:c.993-1G>C (PDE6B)	NP_001138763.2:n.993-1G>C
NM_001145292.2:c.156-1G>C (PDE6B)	NP_001138764.2:n.156-1G>C
NM_001350154.3:c.156-1G>C (PDE6B)	NP_001337083.1:n.156-1G>C
NM_001350155.3:c.-48-935G>C (PDE6B)	NP_001337084.1:n.-48-935G>C
NM_001379246.1:c.156-1G>C (PDE6B)	NP_001366175.1:n.156-1G>C
NM_001379247.1:c.156-1G>C (PDE6B)	NP_001366176.1:n.156-1G>C