Canonical Allele Identifier: CA1432855062

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660476C= , CM000666.2:g.660476C=	GRCh38
NC_000004.11:g.654265C= , CM000666.1:g.654265C=	GRCh37
NC_000004.10:g.644265C=	NCBI36
NG_009839.1:g.39903C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1477C= MANE Select	ENSP00000420295.1:p.Leu493=
ENST00000255622.10:c.1477C=	ENSP00000255622.6:p.Leu493=
ENST00000429163.6:c.640C=	ENSP00000406334.2:p.Leu214=
ENST00000496514.5:c.1477C=	ENSP00000420295.1:p.Leu493=
NM_000283.3:c.1477C=	NP_000274.2:p.Leu493=
NM_001145291.1:c.1477C=	NP_001138763.1:p.Leu493=
NM_001145292.1:c.640C=	NP_001138764.1:p.Leu214=
XM_011513473.1:c.1696C=	XP_011511775.1:p.Leu566=
XM_011513474.1:c.1696C=	XP_011511776.1:p.Leu566=
XM_011513475.1:c.1477C=	XP_011511777.1:p.Leu493=
XM_011513476.1:c.1696C=	XP_011511778.1:p.Leu566=
XM_011513477.1:c.682C=	XP_011511779.1:p.Leu228=
XM_011513478.1:c.406C=	XP_011511780.1:p.Leu136=
NM_001350154.1:c.640C=	NP_001337083.1:p.Leu214=
NM_001350155.1:c.322C=	NP_001337084.1:p.Leu108=
XM_011513473.3:c.1696C=	XP_011511775.1:p.Leu566=
XM_011513474.3:c.1696C=	XP_011511776.1:p.Leu566=
XM_011513475.2:c.1477C=	XP_011511777.1:p.Leu493=
XM_011513476.3:c.1696C=	XP_011511778.1:p.Leu566=
XM_011513478.2:c.406C=	XP_011511780.1:p.Leu136=
XM_017008284.1:c.640C=	XP_016863773.1:p.Leu214=
XM_017008285.1:c.640C=	XP_016863774.1:p.Leu214=
XM_017008286.1:c.640C=	XP_016863775.1:p.Leu214=
NM_001350154.2:c.640C=	NP_001337083.1:p.Leu214=
NM_001350155.2:c.322C=	NP_001337084.1:p.Leu108=
NM_000283.4:c.1477C= MANE Select	NP_000274.3:p.Leu493=
NM_001145291.2:c.1477C=	NP_001138763.2:p.Leu493=
NM_001145292.2:c.640C=	NP_001138764.2:p.Leu214=
NM_001350154.3:c.640C=	NP_001337083.1:p.Leu214=
NM_001350155.3:c.322C=	NP_001337084.1:p.Leu108=
NM_001379246.1:c.640C=	NP_001366175.1:p.Leu214=
NM_001379247.1:c.640C=	NP_001366176.1:p.Leu214=