Canonical Allele Identifier: CA355920570
Community Standard Title: NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter)
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.667945T>A , CM000666.2:g.667945T>A GRCh38
NC_000004.11:g.661734T>A , CM000666.1:g.661734T>A GRCh37
NC_000004.10:g.651734T>A NCBI36
NG_009839.1:g.47372T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000283.4:c.2442T>A MANE Select NP_000274.3:p.Tyr814Ter
ENST00000496514.6:c.2442T>A MANE Select ENSP00000420295.1:p.Tyr814Ter
NM_000283.3:c.2442T>A NP_000274.2:p.Tyr814Ter
NM_001145291.1:c.2442T>A NP_001138763.1:p.Tyr814Ter
NM_001145291.2:c.2442T>A NP_001138763.2:p.Tyr814Ter
NM_001145292.1:c.1605T>A NP_001138764.1:p.Tyr535Ter
NM_001145292.2:c.1605T>A NP_001138764.2:p.Tyr535Ter
NM_001350154.1:c.1601+4T>A NP_001337083.1:n.1601+4T>A
NM_001350154.2:c.1601+4T>A NP_001337083.1:n.1601+4T>A
NM_001350154.3:c.1601+4T>A NP_001337083.1:n.1601+4T>A
NM_001350155.1:c.1283+4T>A NP_001337084.1:n.1283+4T>A
NM_001350155.2:c.1283+4T>A NP_001337084.1:n.1283+4T>A
NM_001350155.3:c.1283+4T>A NP_001337084.1:n.1283+4T>A
NM_001379246.1:c.1605T>A NP_001366175.1:p.Tyr535Ter
NM_001379247.1:c.1605T>A NP_001366176.1:p.Tyr535Ter
ENST00000255622.10:c.2442T>A ENSP00000255622.6:p.Tyr814Ter
ENST00000429163.6:c.1605T>A ENSP00000406334.2:p.Tyr535Ter
ENST00000461490.1:c.280+4T>A
ENST00000471824.6:c.432+1331T>A ENSP00000417852.2:n.432+1331T>A
ENST00000496514.5:c.2442T>A ENSP00000420295.1:p.Tyr814Ter
XM_011513473.1:c.2657+4T>A XP_011511775.1:n.2657+4T>A
XM_011513473.3:c.2657+4T>A XP_011511775.1:n.2657+4T>A
XM_011513474.1:c.2661T>A XP_011511776.1:p.Tyr887Ter
XM_011513474.3:c.2661T>A XP_011511776.1:p.Tyr887Ter
XM_011513475.1:c.2438+4T>A XP_011511777.1:n.2438+4T>A
XM_011513475.2:c.2438+4T>A XP_011511777.1:n.2438+4T>A
XM_011513476.1:c.2571+1331T>A XP_011511778.1:n.2571+1331T>A
XM_011513476.3:c.2571+1331T>A XP_011511778.1:n.2571+1331T>A
XM_011513477.1:c.1643+4T>A XP_011511779.1:n.1643+4T>A
XM_011513478.1:c.1367+4T>A XP_011511780.1:n.1367+4T>A
XM_011513478.2:c.1367+4T>A XP_011511780.1:n.1367+4T>A
XM_017008284.1:c.1601+4T>A XP_016863773.1:n.1601+4T>A
XM_017008285.1:c.1605T>A XP_016863774.1:p.Tyr535Ter
XM_017008286.1:c.1605T>A XP_016863775.1:p.Tyr535Ter