Canonical Allele Identifier: CA2794623
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 849373
dbSNP Id: rs760042062
gnomAD v2: 4-655932-C-T
gnomAD v3: 4-662143-C-T
gnomAD v4: 4-662143-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1624C>T MANE Select ENSP00000420295.1:p.Arg542Trp
ENST00000255622.10:c.1624C>T ENSP00000255622.6:p.Arg542Trp
ENST00000429163.6:c.787C>T ENSP00000406334.2:p.Arg263Trp
ENST00000496514.5:c.1624C>T ENSP00000420295.1:p.Arg542Trp
NM_000283.3:c.1624C>T NP_000274.2:p.Arg542Trp
NM_001145291.1:c.1624C>T NP_001138763.1:p.Arg542Trp
NM_001145292.1:c.787C>T NP_001138764.1:p.Arg263Trp
XM_011513473.1:c.1843C>T XP_011511775.1:p.Arg615Trp
XM_011513474.1:c.1843C>T XP_011511776.1:p.Arg615Trp
XM_011513475.1:c.1624C>T XP_011511777.1:p.Arg542Trp
XM_011513476.1:c.1843C>T XP_011511778.1:p.Arg615Trp
XM_011513477.1:c.829C>T XP_011511779.1:p.Arg277Trp
XM_011513478.1:c.553C>T XP_011511780.1:p.Arg185Trp
XR_925029.1:n.400G>A
NM_001350154.1:c.787C>T NP_001337083.1:p.Arg263Trp
NM_001350155.1:c.469C>T NP_001337084.1:p.Arg157Trp
XM_011513473.3:c.1843C>T XP_011511775.1:p.Arg615Trp
XM_011513474.3:c.1843C>T XP_011511776.1:p.Arg615Trp
XM_011513475.2:c.1624C>T XP_011511777.1:p.Arg542Trp
XM_011513476.3:c.1843C>T XP_011511778.1:p.Arg615Trp
XM_011513478.2:c.553C>T XP_011511780.1:p.Arg185Trp
XM_017008284.1:c.787C>T XP_016863773.1:p.Arg263Trp
XM_017008285.1:c.787C>T XP_016863774.1:p.Arg263Trp
XM_017008286.1:c.787C>T XP_016863775.1:p.Arg263Trp
NM_001350154.2:c.787C>T NP_001337083.1:p.Arg263Trp
NM_001350155.2:c.469C>T NP_001337084.1:p.Arg157Trp
NM_000283.4:c.1624C>T MANE Select NP_000274.3:p.Arg542Trp
NM_001145291.2:c.1624C>T NP_001138763.2:p.Arg542Trp
NM_001145292.2:c.787C>T NP_001138764.2:p.Arg263Trp
NM_001350154.3:c.787C>T NP_001337083.1:p.Arg263Trp
NM_001350155.3:c.469C>T NP_001337084.1:p.Arg157Trp
NM_001379246.1:c.787C>T NP_001366175.1:p.Arg263Trp
NM_001379247.1:c.787C>T NP_001366176.1:p.Arg263Trp