Canonical Allele Identifier: CA1432853861
Gene: PDE6B HGNC NCBI

Linked Data

dbSNP Id: rs1737586868
gnomAD v4: 4-664754-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.664754T>C , CM000666.2:g.664754T>C GRCh38
NC_000004.11:g.658543T>C , CM000666.1:g.658543T>C GRCh37
NC_000004.10:g.648543T>C NCBI36
NG_009839.1:g.44181T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496514.6:c.2130-127T>C MANE Select ENSP00000420295.1:n.2130-127T>C
ENST00000255622.10:c.2130-127T>C ENSP00000255622.6:n.2130-127T>C
ENST00000429163.6:c.1293-127T>C ENSP00000406334.2:n.1293-127T>C
ENST00000460119.1:n.500-127T>C
ENST00000471824.6:c.210-127T>C ENSP00000417852.2:n.210-127T>C
ENST00000496514.5:c.2130-127T>C ENSP00000420295.1:n.2130-127T>C
NM_000283.3:c.2130-127T>C NP_000274.2:n.2130-127T>C
NM_001145291.1:c.2130-127T>C NP_001138763.1:n.2130-127T>C
NM_001145292.1:c.1293-127T>C NP_001138764.1:n.1293-127T>C
XM_011513473.1:c.2349-127T>C XP_011511775.1:n.2349-127T>C
XM_011513474.1:c.2349-127T>C XP_011511776.1:n.2349-127T>C
XM_011513475.1:c.2130-127T>C XP_011511777.1:n.2130-127T>C
XM_011513476.1:c.2349-127T>C XP_011511778.1:n.2349-127T>C
XM_011513477.1:c.1335-127T>C XP_011511779.1:n.1335-127T>C
XM_011513478.1:c.1059-127T>C XP_011511780.1:n.1059-127T>C
NM_001350154.1:c.1293-127T>C NP_001337083.1:n.1293-127T>C
NM_001350155.1:c.975-127T>C NP_001337084.1:n.975-127T>C
XM_011513473.3:c.2349-127T>C XP_011511775.1:n.2349-127T>C
XM_011513474.3:c.2349-127T>C XP_011511776.1:n.2349-127T>C
XM_011513475.2:c.2130-127T>C XP_011511777.1:n.2130-127T>C
XM_011513476.3:c.2349-127T>C XP_011511778.1:n.2349-127T>C
XM_011513478.2:c.1059-127T>C XP_011511780.1:n.1059-127T>C
XM_017008284.1:c.1293-127T>C XP_016863773.1:n.1293-127T>C
XM_017008285.1:c.1293-127T>C XP_016863774.1:n.1293-127T>C
XM_017008286.1:c.1293-127T>C XP_016863775.1:n.1293-127T>C
NM_001350154.2:c.1293-127T>C NP_001337083.1:n.1293-127T>C
NM_001350155.2:c.975-127T>C NP_001337084.1:n.975-127T>C
NM_000283.4:c.2130-127T>C MANE Select NP_000274.3:n.2130-127T>C
NM_001145291.2:c.2130-127T>C NP_001138763.2:n.2130-127T>C
NM_001145292.2:c.1293-127T>C NP_001138764.2:n.1293-127T>C
NM_001350154.3:c.1293-127T>C NP_001337083.1:n.1293-127T>C
NM_001350155.3:c.975-127T>C NP_001337084.1:n.975-127T>C
NM_001379246.1:c.1293-127T>C NP_001366175.1:n.1293-127T>C
NM_001379247.1:c.1293-127T>C NP_001366176.1:n.1293-127T>C