Canonical Allele Identifier: CA355912456
Community Standard Title: NM_000283.4(PDE6B):c.1010A>G (p.His337Arg)
Gene: PDE6B HGNC NCBI
PDE6B-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.655957A>G , CM000666.2:g.655957A>G GRCh38
NC_000004.11:g.649746A>G , CM000666.1:g.649746A>G GRCh37
NC_000004.10:g.639746A>G NCBI36
NG_009839.1:g.35384A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000283.4:c.1010A>G (PDE6B) MANE Select NP_000274.3:p.His337Arg
ENST00000496514.6:c.1010A>G (PDE6B) MANE Select ENSP00000420295.1:p.His337Arg
NM_000283.3:c.1010A>G (PDE6B) NP_000274.2:p.His337Arg
NM_001145291.1:c.1010A>G (PDE6B) NP_001138763.1:p.His337Arg
NM_001145291.2:c.1010A>G (PDE6B) NP_001138763.2:p.His337Arg
NM_001145292.1:c.173A>G (PDE6B) NP_001138764.1:p.His58Arg
NM_001145292.2:c.173A>G (PDE6B) NP_001138764.2:p.His58Arg
NM_001350154.1:c.173A>G (PDE6B) NP_001337083.1:p.His58Arg
NM_001350154.2:c.173A>G (PDE6B) NP_001337083.1:p.His58Arg
NM_001350154.3:c.173A>G (PDE6B) NP_001337083.1:p.His58Arg
NM_001350155.1:c.-48-917A>G (PDE6B) NP_001337084.1:n.-48-917A>G
NM_001350155.2:c.-48-917A>G (PDE6B) NP_001337084.1:n.-48-917A>G
NM_001350155.3:c.-48-917A>G (PDE6B) NP_001337084.1:n.-48-917A>G
NM_001379246.1:c.173A>G (PDE6B) NP_001366175.1:p.His58Arg
NM_001379247.1:c.173A>G (PDE6B) NP_001366176.1:p.His58Arg
ENST00000255622.10:c.1010A>G (PDE6B) ENSP00000255622.6:p.His337Arg
ENST00000429163.6:c.173A>G (PDE6B) ENSP00000406334.2:p.His58Arg
ENST00000487902.5:c.173A>G (PDE6B) ENSP00000418256.1:p.His58Arg
ENST00000496514.5:c.1010A>G (PDE6B) ENSP00000420295.1:p.His337Arg
XM_011513473.1:c.1229A>G (PDE6B) XP_011511775.1:p.His410Arg
XM_011513473.3:c.1229A>G (PDE6B) XP_011511775.1:p.His410Arg
XM_011513474.1:c.1229A>G (PDE6B) XP_011511776.1:p.His410Arg
XM_011513474.3:c.1229A>G (PDE6B) XP_011511776.1:p.His410Arg
XM_011513475.1:c.1010A>G (PDE6B) XP_011511777.1:p.His337Arg
XM_011513475.2:c.1010A>G (PDE6B) XP_011511777.1:p.His337Arg
XM_011513476.1:c.1229A>G (PDE6B) XP_011511778.1:p.His410Arg
XM_011513476.3:c.1229A>G (PDE6B) XP_011511778.1:p.His410Arg
XM_011513477.1:c.265-288A>G (PDE6B) XP_011511779.1:n.265-288A>G
XM_011513478.1:c.-62A>G (PDE6B) XP_011511780.1:n.-62A>G
XM_011513478.2:c.-62A>G (PDE6B) XP_011511780.1:n.-62A>G
XM_017008284.1:c.173A>G (PDE6B) XP_016863773.1:p.His58Arg
XM_017008285.1:c.173A>G (PDE6B) XP_016863774.1:p.His58Arg
XM_017008286.1:c.173A>G (PDE6B) XP_016863775.1:p.His58Arg
XR_001741541.1:n.232T>C (PDE6B-AS1)
XR_246615.3:n.232T>C (PDE6B-AS1)