Canonical Allele Identifier: CA2794512
Community Standard Title: NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.658964C>T , CM000666.2:g.658964C>T GRCh38
NC_000004.11:g.652753C>T , CM000666.1:g.652753C>T GRCh37
NC_000004.10:g.642753C>T NCBI36
NG_009839.1:g.38391C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000283.4:c.1414C>T MANE Select NP_000274.3:p.Arg472Cys
ENST00000496514.6:c.1414C>T MANE Select ENSP00000420295.1:p.Arg472Cys
NM_000283.3:c.1414C>T NP_000274.2:p.Arg472Cys
NM_001145291.1:c.1414C>T NP_001138763.1:p.Arg472Cys
NM_001145291.2:c.1414C>T NP_001138763.2:p.Arg472Cys
NM_001145292.1:c.577C>T NP_001138764.1:p.Arg193Cys
NM_001145292.2:c.577C>T NP_001138764.2:p.Arg193Cys
NM_001350154.1:c.577C>T NP_001337083.1:p.Arg193Cys
NM_001350154.2:c.577C>T NP_001337083.1:p.Arg193Cys
NM_001350154.3:c.577C>T NP_001337083.1:p.Arg193Cys
NM_001350155.1:c.259C>T NP_001337084.1:p.Arg87Cys
NM_001350155.2:c.259C>T NP_001337084.1:p.Arg87Cys
NM_001350155.3:c.259C>T NP_001337084.1:p.Arg87Cys
NM_001379246.1:c.577C>T NP_001366175.1:p.Arg193Cys
NM_001379247.1:c.577C>T NP_001366176.1:p.Arg193Cys
ENST00000255622.10:c.1414C>T ENSP00000255622.6:p.Arg472Cys
ENST00000429163.6:c.577C>T ENSP00000406334.2:p.Arg193Cys
ENST00000496514.5:c.1414C>T ENSP00000420295.1:p.Arg472Cys
XM_011513473.1:c.1633C>T XP_011511775.1:p.Arg545Cys
XM_011513473.3:c.1633C>T XP_011511775.1:p.Arg545Cys
XM_011513474.1:c.1633C>T XP_011511776.1:p.Arg545Cys
XM_011513474.3:c.1633C>T XP_011511776.1:p.Arg545Cys
XM_011513475.1:c.1414C>T XP_011511777.1:p.Arg472Cys
XM_011513475.2:c.1414C>T XP_011511777.1:p.Arg472Cys
XM_011513476.1:c.1633C>T XP_011511778.1:p.Arg545Cys
XM_011513476.3:c.1633C>T XP_011511778.1:p.Arg545Cys
XM_011513477.1:c.619C>T XP_011511779.1:p.Arg207Cys
XM_011513478.1:c.343C>T XP_011511780.1:p.Arg115Cys
XM_011513478.2:c.343C>T XP_011511780.1:p.Arg115Cys
XM_017008284.1:c.577C>T XP_016863773.1:p.Arg193Cys
XM_017008285.1:c.577C>T XP_016863774.1:p.Arg193Cys
XM_017008286.1:c.577C>T XP_016863775.1:p.Arg193Cys