Canonical Allele Identifier: CA438053435
Gene: PDE6B HGNC NCBI

Linked Data

dbSNP Id: rs760042062
gnomAD v2: 4-655932-C-A
gnomAD v4: 4-662143-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.662143C>A , CM000666.2:g.662143C>A GRCh38
NC_000004.11:g.655932C>A , CM000666.1:g.655932C>A GRCh37
NC_000004.10:g.645932C>A NCBI36
NG_009839.1:g.41570C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1624C>A MANE Select ENSP00000420295.1:p.Arg542=
ENST00000255622.10:c.1624C>A ENSP00000255622.6:p.Arg542=
ENST00000429163.6:c.787C>A ENSP00000406334.2:p.Arg263=
ENST00000496514.5:c.1624C>A ENSP00000420295.1:p.Arg542=
NM_000283.3:c.1624C>A NP_000274.2:p.Arg542=
NM_001145291.1:c.1624C>A NP_001138763.1:p.Arg542=
NM_001145292.1:c.787C>A NP_001138764.1:p.Arg263=
XM_011513473.1:c.1843C>A XP_011511775.1:p.Arg615=
XM_011513474.1:c.1843C>A XP_011511776.1:p.Arg615=
XM_011513475.1:c.1624C>A XP_011511777.1:p.Arg542=
XM_011513476.1:c.1843C>A XP_011511778.1:p.Arg615=
XM_011513477.1:c.829C>A XP_011511779.1:p.Arg277=
XM_011513478.1:c.553C>A XP_011511780.1:p.Arg185=
XR_925029.1:n.400G>T
NM_001350154.1:c.787C>A NP_001337083.1:p.Arg263=
NM_001350155.1:c.469C>A NP_001337084.1:p.Arg157=
XM_011513473.3:c.1843C>A XP_011511775.1:p.Arg615=
XM_011513474.3:c.1843C>A XP_011511776.1:p.Arg615=
XM_011513475.2:c.1624C>A XP_011511777.1:p.Arg542=
XM_011513476.3:c.1843C>A XP_011511778.1:p.Arg615=
XM_011513478.2:c.553C>A XP_011511780.1:p.Arg185=
XM_017008284.1:c.787C>A XP_016863773.1:p.Arg263=
XM_017008285.1:c.787C>A XP_016863774.1:p.Arg263=
XM_017008286.1:c.787C>A XP_016863775.1:p.Arg263=
NM_001350154.2:c.787C>A NP_001337083.1:p.Arg263=
NM_001350155.2:c.469C>A NP_001337084.1:p.Arg157=
NM_000283.4:c.1624C>A MANE Select NP_000274.3:p.Arg542=
NM_001145291.2:c.1624C>A NP_001138763.2:p.Arg542=
NM_001145292.2:c.787C>A NP_001138764.2:p.Arg263=
NM_001350154.3:c.787C>A NP_001337083.1:p.Arg263=
NM_001350155.3:c.469C>A NP_001337084.1:p.Arg157=
NM_001379246.1:c.787C>A NP_001366175.1:p.Arg263=
NM_001379247.1:c.787C>A NP_001366176.1:p.Arg263=