Canonical Allele Identifier: CA1432854347

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664942A= , CM000666.2:g.664942A=	GRCh38
NC_000004.11:g.658731A= , CM000666.1:g.658731A=	GRCh37
NC_000004.10:g.648731A=	NCBI36
NG_009839.1:g.44369A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2191A= MANE Select	ENSP00000420295.1:p.Lys731=
ENST00000255622.10:c.2191A=	ENSP00000255622.6:p.Lys731=
ENST00000429163.6:c.1354A=	ENSP00000406334.2:p.Lys452=
ENST00000461490.1:c.33A=
ENST00000471824.6:c.271A=	ENSP00000417852.2:p.Lys91=
ENST00000496514.5:c.2191A=	ENSP00000420295.1:p.Lys731=
NM_000283.3:c.2191A=	NP_000274.2:p.Lys731=
NM_001145291.1:c.2191A=	NP_001138763.1:p.Lys731=
NM_001145292.1:c.1354A=	NP_001138764.1:p.Lys452=
XM_011513473.1:c.2410A=	XP_011511775.1:p.Lys804=
XM_011513474.1:c.2410A=	XP_011511776.1:p.Lys804=
XM_011513475.1:c.2191A=	XP_011511777.1:p.Lys731=
XM_011513476.1:c.2410A=	XP_011511778.1:p.Lys804=
XM_011513477.1:c.1396A=	XP_011511779.1:p.Lys466=
XM_011513478.1:c.1120A=	XP_011511780.1:p.Lys374=
NM_001350154.1:c.1354A=	NP_001337083.1:p.Lys452=
NM_001350155.1:c.1036A=	NP_001337084.1:p.Lys346=
XM_011513473.3:c.2410A=	XP_011511775.1:p.Lys804=
XM_011513474.3:c.2410A=	XP_011511776.1:p.Lys804=
XM_011513475.2:c.2191A=	XP_011511777.1:p.Lys731=
XM_011513476.3:c.2410A=	XP_011511778.1:p.Lys804=
XM_011513478.2:c.1120A=	XP_011511780.1:p.Lys374=
XM_017008284.1:c.1354A=	XP_016863773.1:p.Lys452=
XM_017008285.1:c.1354A=	XP_016863774.1:p.Lys452=
XM_017008286.1:c.1354A=	XP_016863775.1:p.Lys452=
NM_001350154.2:c.1354A=	NP_001337083.1:p.Lys452=
NM_001350155.2:c.1036A=	NP_001337084.1:p.Lys346=
NM_000283.4:c.2191A= MANE Select	NP_000274.3:p.Lys731=
NM_001145291.2:c.2191A=	NP_001138763.2:p.Lys731=
NM_001145292.2:c.1354A=	NP_001138764.2:p.Lys452=
NM_001350154.3:c.1354A=	NP_001337083.1:p.Lys452=
NM_001350155.3:c.1036A=	NP_001337084.1:p.Lys346=
NM_001379246.1:c.1354A=	NP_001366175.1:p.Lys452=
NM_001379247.1:c.1354A=	NP_001366176.1:p.Lys452=