Canonical Allele Identifier: CA2760111311
Gene: PDE6B HGNC NCBI
PDE6B-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.654253G>T , CM000666.2:g.654253G>T GRCh38
NC_000004.11:g.648042G>T , CM000666.1:g.648042G>T GRCh37
NC_000004.10:g.638042G>T NCBI36
NG_009839.1:g.33680G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.927+99G>T (PDE6B) MANE Select ENSP00000420295.1:n.927+99G>T
ENST00000255622.10:c.927+99G>T (PDE6B) ENSP00000255622.6:n.927+99G>T
ENST00000429163.6:c.90+99G>T (PDE6B) ENSP00000406334.2:n.90+99G>T
ENST00000465426.5:c.90+99G>T (PDE6B) ENSP00000418454.1:n.90+99G>T
ENST00000467152.1:n.424G>T (PDE6B)
ENST00000474251.5:n.477G>T (PDE6B)
ENST00000476034.5:n.596G>T (PDE6B)
ENST00000487902.5:c.90+99G>T (PDE6B) ENSP00000418256.1:n.90+99G>T
ENST00000496514.5:c.927+99G>T (PDE6B) ENSP00000420295.1:n.927+99G>T
NM_000283.3:c.927+99G>T (PDE6B) NP_000274.2:n.927+99G>T
NM_001145291.1:c.927+99G>T (PDE6B) NP_001138763.1:n.927+99G>T
NM_001145292.1:c.90+99G>T (PDE6B) NP_001138764.1:n.90+99G>T
XM_011513473.1:c.1146+99G>T (PDE6B) XP_011511775.1:n.1146+99G>T
XM_011513474.1:c.1146+99G>T (PDE6B) XP_011511776.1:n.1146+99G>T
XM_011513475.1:c.927+99G>T (PDE6B) XP_011511777.1:n.927+99G>T
XM_011513476.1:c.1146+99G>T (PDE6B) XP_011511778.1:n.1146+99G>T
XM_011513477.1:c.-372G>T (PDE6B) XP_011511779.1:n.-372G>T
XM_011513478.1:c.-715G>T (PDE6B) XP_011511780.1:n.-715G>T
XR_246615.2:n.866-40C>A (PDE6B-AS1)
XR_925030.1:n.866-282C>A (PDE6B-AS1)
NM_001350154.1:c.90+99G>T (PDE6B) NP_001337083.1:n.90+99G>T
NM_001350155.1:c.-114+99G>T (PDE6B) NP_001337084.1:n.-114+99G>T
XM_011513473.3:c.1146+99G>T (PDE6B) XP_011511775.1:n.1146+99G>T
XM_011513474.3:c.1146+99G>T (PDE6B) XP_011511776.1:n.1146+99G>T
XM_011513475.2:c.927+99G>T (PDE6B) XP_011511777.1:n.927+99G>T
XM_011513476.3:c.1146+99G>T (PDE6B) XP_011511778.1:n.1146+99G>T
XM_011513478.2:c.-715G>T (PDE6B) XP_011511780.1:n.-715G>T
XM_017008284.1:c.90+99G>T (PDE6B) XP_016863773.1:n.90+99G>T
XM_017008285.1:c.90+99G>T (PDE6B) XP_016863774.1:n.90+99G>T
XM_017008286.1:c.90+99G>T (PDE6B) XP_016863775.1:n.90+99G>T
XR_001741541.1:n.1108-282C>A (PDE6B-AS1)
XR_246615.3:n.1108-40C>A (PDE6B-AS1)
NM_001350154.2:c.90+99G>T (PDE6B) NP_001337083.1:n.90+99G>T
NM_001350155.2:c.-114+99G>T (PDE6B) NP_001337084.1:n.-114+99G>T
NM_000283.4:c.927+99G>T (PDE6B) MANE Select NP_000274.3:n.927+99G>T
NM_001145291.2:c.927+99G>T (PDE6B) NP_001138763.2:n.927+99G>T
NM_001145292.2:c.90+99G>T (PDE6B) NP_001138764.2:n.90+99G>T
NM_001350154.3:c.90+99G>T (PDE6B) NP_001337083.1:n.90+99G>T
NM_001350155.3:c.-114+99G>T (PDE6B) NP_001337084.1:n.-114+99G>T
NM_001379246.1:c.90+99G>T (PDE6B) NP_001366175.1:n.90+99G>T
NM_001379247.1:c.90+99G>T (PDE6B) NP_001366176.1:n.90+99G>T