Canonical Allele Identifier: CA256723

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 13109
• ClinVar RCV Id: RCV000013988 ; RCV001257886
• dbSNP Id: rs121918583
• MyVariant Identifiers: chr4:g.661711T>A (hg19) ; chr4:g.667922T>A (hg38)
• PubMed: PMID:10234513 ; PMID:18854872 ; PMID:29472945

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.667922T>A , CM000666.2:g.667922T>A	GRCh38
NC_000004.11:g.661711T>A , CM000666.1:g.661711T>A	GRCh37
NC_000004.10:g.651711T>A	NCBI36
NG_009839.1:g.47349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2419T>A MANE Select	ENSP00000420295.1:p.Trp807Arg
ENST00000255622.10:c.2419T>A	ENSP00000255622.6:p.Trp807Arg
ENST00000429163.6:c.1582T>A	ENSP00000406334.2:p.Trp528Arg
ENST00000461490.1:c.261T>A
ENST00000471824.6:c.432+1308T>A	ENSP00000417852.2:n.432+1308T>A
ENST00000496514.5:c.2419T>A	ENSP00000420295.1:p.Trp807Arg
NM_000283.3:c.2419T>A	NP_000274.2:p.Trp807Arg
NM_001145291.1:c.2419T>A	NP_001138763.1:p.Trp807Arg
NM_001145292.1:c.1582T>A	NP_001138764.1:p.Trp528Arg
XM_011513473.1:c.2638T>A	XP_011511775.1:p.Trp880Arg
XM_011513474.1:c.2638T>A	XP_011511776.1:p.Trp880Arg
XM_011513475.1:c.2419T>A	XP_011511777.1:p.Trp807Arg
XM_011513476.1:c.2571+1308T>A	XP_011511778.1:n.2571+1308T>A
XM_011513477.1:c.1624T>A	XP_011511779.1:p.Trp542Arg
XM_011513478.1:c.1348T>A	XP_011511780.1:p.Trp450Arg
NM_001350154.1:c.1582T>A	NP_001337083.1:p.Trp528Arg
NM_001350155.1:c.1264T>A	NP_001337084.1:p.Trp422Arg
XM_011513473.3:c.2638T>A	XP_011511775.1:p.Trp880Arg
XM_011513474.3:c.2638T>A	XP_011511776.1:p.Trp880Arg
XM_011513475.2:c.2419T>A	XP_011511777.1:p.Trp807Arg
XM_011513476.3:c.2571+1308T>A	XP_011511778.1:n.2571+1308T>A
XM_011513478.2:c.1348T>A	XP_011511780.1:p.Trp450Arg
XM_017008284.1:c.1582T>A	XP_016863773.1:p.Trp528Arg
XM_017008285.1:c.1582T>A	XP_016863774.1:p.Trp528Arg
XM_017008286.1:c.1582T>A	XP_016863775.1:p.Trp528Arg
NM_001350154.2:c.1582T>A	NP_001337083.1:p.Trp528Arg
NM_001350155.2:c.1264T>A	NP_001337084.1:p.Trp422Arg
NM_000283.4:c.2419T>A MANE Select	NP_000274.3:p.Trp807Arg
NM_001145291.2:c.2419T>A	NP_001138763.2:p.Trp807Arg
NM_001145292.2:c.1582T>A	NP_001138764.2:p.Trp528Arg
NM_001350154.3:c.1582T>A	NP_001337083.1:p.Trp528Arg
NM_001350155.3:c.1264T>A	NP_001337084.1:p.Trp422Arg
NM_001379246.1:c.1582T>A	NP_001366175.1:p.Trp528Arg
NM_001379247.1:c.1582T>A	NP_001366176.1:p.Trp528Arg