Canonical Allele Identifier: CA2669420161
Gene: PDE6B HGNC NCBI
PDE6B-AS1 HGNC NCBI

Linked Data

gnomAD v4: 4-654039-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.654039T>C , CM000666.2:g.654039T>C GRCh38
NC_000004.11:g.647828T>C , CM000666.1:g.647828T>C GRCh37
NC_000004.10:g.637828T>C NCBI36
NG_009839.1:g.33466T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496514.6:c.853-41T>C (PDE6B) MANE Select ENSP00000420295.1:n.853-41T>C
ENST00000255622.10:c.853-41T>C (PDE6B) ENSP00000255622.6:n.853-41T>C
ENST00000429163.6:c.16-41T>C (PDE6B) ENSP00000406334.2:n.16-41T>C
ENST00000465426.5:c.16-41T>C (PDE6B) ENSP00000418454.1:n.16-41T>C
ENST00000467152.1:n.251-41T>C (PDE6B)
ENST00000474251.5:n.304-41T>C (PDE6B)
ENST00000476034.5:n.423-41T>C (PDE6B)
ENST00000487902.5:c.16-41T>C (PDE6B) ENSP00000418256.1:n.16-41T>C
ENST00000488061.5:c.16-41T>C (PDE6B) ENSP00000420228.1:n.16-41T>C
ENST00000496514.5:c.853-41T>C (PDE6B) ENSP00000420295.1:n.853-41T>C
NM_000283.3:c.853-41T>C (PDE6B) NP_000274.2:n.853-41T>C
NM_001145291.1:c.853-41T>C (PDE6B) NP_001138763.1:n.853-41T>C
NM_001145292.1:c.16-41T>C (PDE6B) NP_001138764.1:n.16-41T>C
XM_011513473.1:c.1072-41T>C (PDE6B) XP_011511775.1:n.1072-41T>C
XM_011513474.1:c.1072-41T>C (PDE6B) XP_011511776.1:n.1072-41T>C
XM_011513475.1:c.853-41T>C (PDE6B) XP_011511777.1:n.853-41T>C
XM_011513476.1:c.1072-41T>C (PDE6B) XP_011511778.1:n.1072-41T>C
XM_011513477.1:c.-545-41T>C (PDE6B) XP_011511779.1:n.-545-41T>C
XM_011513478.1:c.-888-41T>C (PDE6B) XP_011511780.1:n.-888-41T>C
XR_246615.2:n.1014+26A>G (PDE6B-AS1)
XR_925030.1:n.866-68A>G (PDE6B-AS1)
NM_001350154.1:c.16-41T>C (PDE6B) NP_001337083.1:n.16-41T>C
NM_001350155.1:c.-188-41T>C (PDE6B) NP_001337084.1:n.-188-41T>C
XM_011513473.3:c.1072-41T>C (PDE6B) XP_011511775.1:n.1072-41T>C
XM_011513474.3:c.1072-41T>C (PDE6B) XP_011511776.1:n.1072-41T>C
XM_011513475.2:c.853-41T>C (PDE6B) XP_011511777.1:n.853-41T>C
XM_011513476.3:c.1072-41T>C (PDE6B) XP_011511778.1:n.1072-41T>C
XM_011513478.2:c.-888-41T>C (PDE6B) XP_011511780.1:n.-888-41T>C
XM_017008284.1:c.16-41T>C (PDE6B) XP_016863773.1:n.16-41T>C
XM_017008285.1:c.16-41T>C (PDE6B) XP_016863774.1:n.16-41T>C
XM_017008286.1:c.16-41T>C (PDE6B) XP_016863775.1:n.16-41T>C
XR_001741541.1:n.1108-68A>G (PDE6B-AS1)
XR_246615.3:n.1256+26A>G (PDE6B-AS1)
NM_001350154.2:c.16-41T>C (PDE6B) NP_001337083.1:n.16-41T>C
NM_001350155.2:c.-188-41T>C (PDE6B) NP_001337084.1:n.-188-41T>C
NM_000283.4:c.853-41T>C (PDE6B) MANE Select NP_000274.3:n.853-41T>C
NM_001145291.2:c.853-41T>C (PDE6B) NP_001138763.2:n.853-41T>C
NM_001145292.2:c.16-41T>C (PDE6B) NP_001138764.2:n.16-41T>C
NM_001350154.3:c.16-41T>C (PDE6B) NP_001337083.1:n.16-41T>C
NM_001350155.3:c.-188-41T>C (PDE6B) NP_001337084.1:n.-188-41T>C
NM_001379246.1:c.16-41T>C (PDE6B) NP_001366175.1:n.16-41T>C
NM_001379247.1:c.16-41T>C (PDE6B) NP_001366176.1:n.16-41T>C