Canonical Allele Identifier: CA1432860099

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662597C= , CM000666.2:g.662597C=	GRCh38
NC_000004.11:g.656386C= , CM000666.1:g.656386C=	GRCh37
NC_000004.10:g.646386C=	NCBI36
NG_009839.1:g.42024C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1811C= MANE Select	ENSP00000420295.1:p.Thr604=
ENST00000255622.10:c.1811C=	ENSP00000255622.6:p.Thr604=
ENST00000429163.6:c.974C=	ENSP00000406334.2:p.Thr325=
ENST00000496514.5:c.1811C=	ENSP00000420295.1:p.Thr604=
NM_000283.3:c.1811C=	NP_000274.2:p.Thr604=
NM_001145291.1:c.1811C=	NP_001138763.1:p.Thr604=
NM_001145292.1:c.974C=	NP_001138764.1:p.Thr325=
XM_011513473.1:c.2030C=	XP_011511775.1:p.Thr677=
XM_011513474.1:c.2030C=	XP_011511776.1:p.Thr677=
XM_011513475.1:c.1811C=	XP_011511777.1:p.Thr604=
XM_011513476.1:c.2030C=	XP_011511778.1:p.Thr677=
XM_011513477.1:c.1016C=	XP_011511779.1:p.Thr339=
XM_011513478.1:c.740C=	XP_011511780.1:p.Thr247=
XR_925029.1:n.203G=
NM_001350154.1:c.974C=	NP_001337083.1:p.Thr325=
NM_001350155.1:c.656C=	NP_001337084.1:p.Thr219=
XM_011513473.3:c.2030C=	XP_011511775.1:p.Thr677=
XM_011513474.3:c.2030C=	XP_011511776.1:p.Thr677=
XM_011513475.2:c.1811C=	XP_011511777.1:p.Thr604=
XM_011513476.3:c.2030C=	XP_011511778.1:p.Thr677=
XM_011513478.2:c.740C=	XP_011511780.1:p.Thr247=
XM_017008284.1:c.974C=	XP_016863773.1:p.Thr325=
XM_017008285.1:c.974C=	XP_016863774.1:p.Thr325=
XM_017008286.1:c.974C=	XP_016863775.1:p.Thr325=
NM_001350154.2:c.974C=	NP_001337083.1:p.Thr325=
NM_001350155.2:c.656C=	NP_001337084.1:p.Thr219=
NM_000283.4:c.1811C= MANE Select	NP_000274.3:p.Thr604=
NM_001145291.2:c.1811C=	NP_001138763.2:p.Thr604=
NM_001145292.2:c.974C=	NP_001138764.2:p.Thr325=
NM_001350154.3:c.974C=	NP_001337083.1:p.Thr325=
NM_001350155.3:c.656C=	NP_001337084.1:p.Thr219=
NM_001379246.1:c.974C=	NP_001366175.1:p.Thr325=
NM_001379247.1:c.974C=	NP_001366176.1:p.Thr325=