Canonical Allele Identifier: CA1432844975
Gene: PDE6B HGNC NCBI
PDE6B-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.654119C= , CM000666.2:g.654119C= GRCh38
NC_000004.11:g.647908C= , CM000666.1:g.647908C= GRCh37
NC_000004.10:g.637908C= NCBI36
NG_009839.1:g.33546C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.892C= (PDE6B) MANE Select ENSP00000420295.1:p.Gln298=
ENST00000255622.10:c.892C= (PDE6B) ENSP00000255622.6:p.Gln298=
ENST00000429163.6:c.55C= (PDE6B) ENSP00000406334.2:p.Gln19=
ENST00000465426.5:c.55C= (PDE6B) ENSP00000418454.1:p.Gln19=
ENST00000467152.1:n.290C= (PDE6B)
ENST00000474251.5:n.343C= (PDE6B)
ENST00000476034.5:n.462C= (PDE6B)
ENST00000487902.5:c.55C= (PDE6B) ENSP00000418256.1:p.Gln19=
ENST00000496514.5:c.892C= (PDE6B) ENSP00000420295.1:p.Gln298=
NM_000283.3:c.892C= (PDE6B) NP_000274.2:p.Gln298=
NM_001145291.1:c.892C= (PDE6B) NP_001138763.1:p.Gln298=
NM_001145292.1:c.55C= (PDE6B) NP_001138764.1:p.Gln19=
XM_011513473.1:c.1111C= (PDE6B) XP_011511775.1:p.Gln371=
XM_011513474.1:c.1111C= (PDE6B) XP_011511776.1:p.Gln371=
XM_011513475.1:c.892C= (PDE6B) XP_011511777.1:p.Gln298=
XM_011513476.1:c.1111C= (PDE6B) XP_011511778.1:p.Gln371=
XM_011513477.1:c.-506C= (PDE6B) XP_011511779.1:n.-506C=
XM_011513478.1:c.-849C= (PDE6B) XP_011511780.1:n.-849C=
XR_246615.2:n.960G= (PDE6B-AS1)
XR_925030.1:n.866-148G= (PDE6B-AS1)
NM_001350154.1:c.55C= (PDE6B) NP_001337083.1:p.Gln19=
NM_001350155.1:c.-149C= (PDE6B) NP_001337084.1:n.-149C=
XM_011513473.3:c.1111C= (PDE6B) XP_011511775.1:p.Gln371=
XM_011513474.3:c.1111C= (PDE6B) XP_011511776.1:p.Gln371=
XM_011513475.2:c.892C= (PDE6B) XP_011511777.1:p.Gln298=
XM_011513476.3:c.1111C= (PDE6B) XP_011511778.1:p.Gln371=
XM_011513478.2:c.-849C= (PDE6B) XP_011511780.1:n.-849C=
XM_017008284.1:c.55C= (PDE6B) XP_016863773.1:p.Gln19=
XM_017008285.1:c.55C= (PDE6B) XP_016863774.1:p.Gln19=
XM_017008286.1:c.55C= (PDE6B) XP_016863775.1:p.Gln19=
XR_001741541.1:n.1108-148G= (PDE6B-AS1)
XR_246615.3:n.1202G= (PDE6B-AS1)
NM_001350154.2:c.55C= (PDE6B) NP_001337083.1:p.Gln19=
NM_001350155.2:c.-149C= (PDE6B) NP_001337084.1:n.-149C=
NM_000283.4:c.892C= (PDE6B) MANE Select NP_000274.3:p.Gln298=
NM_001145291.2:c.892C= (PDE6B) NP_001138763.2:p.Gln298=
NM_001145292.2:c.55C= (PDE6B) NP_001138764.2:p.Gln19=
NM_001350154.3:c.55C= (PDE6B) NP_001337083.1:p.Gln19=
NM_001350155.3:c.-149C= (PDE6B) NP_001337084.1:n.-149C=
NM_001379246.1:c.55C= (PDE6B) NP_001366175.1:p.Gln19=
NM_001379247.1:c.55C= (PDE6B) NP_001366176.1:p.Gln19=