Canonical Allele Identifier: CA437900505

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.663163T>C , CM000666.2:g.663163T>C	GRCh38
NC_000004.11:g.656952T>C , CM000666.1:g.656952T>C	GRCh37
NC_000004.10:g.646952T>C	NCBI36
NG_009839.1:g.42590T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.4:c.1896T>C MANE Select	NP_000274.3:p.Phe632=
ENST00000496514.6:c.1896T>C MANE Select	ENSP00000420295.1:p.Phe632=
NM_000283.3:c.1896T>C	NP_000274.2:p.Phe632=
NM_001145291.1:c.1896T>C	NP_001138763.1:p.Phe632=
NM_001145291.2:c.1896T>C	NP_001138763.2:p.Phe632=
NM_001145292.1:c.1059T>C	NP_001138764.1:p.Phe353=
NM_001145292.2:c.1059T>C	NP_001138764.2:p.Phe353=
NM_001350154.1:c.1059T>C	NP_001337083.1:p.Phe353=
NM_001350154.2:c.1059T>C	NP_001337083.1:p.Phe353=
NM_001350154.3:c.1059T>C	NP_001337083.1:p.Phe353=
NM_001350155.1:c.741T>C	NP_001337084.1:p.Phe247=
NM_001350155.2:c.741T>C	NP_001337084.1:p.Phe247=
NM_001350155.3:c.741T>C	NP_001337084.1:p.Phe247=
NM_001379246.1:c.1059T>C	NP_001366175.1:p.Phe353=
NM_001379247.1:c.1059T>C	NP_001366176.1:p.Phe353=
ENST00000255622.10:c.1896T>C	ENSP00000255622.6:p.Phe632=
ENST00000429163.6:c.1059T>C	ENSP00000406334.2:p.Phe353=
ENST00000496514.5:c.1896T>C	ENSP00000420295.1:p.Phe632=
XM_011513473.1:c.2115T>C	XP_011511775.1:p.Phe705=
XM_011513473.3:c.2115T>C	XP_011511775.1:p.Phe705=
XM_011513474.1:c.2115T>C	XP_011511776.1:p.Phe705=
XM_011513474.3:c.2115T>C	XP_011511776.1:p.Phe705=
XM_011513475.1:c.1896T>C	XP_011511777.1:p.Phe632=
XM_011513475.2:c.1896T>C	XP_011511777.1:p.Phe632=
XM_011513476.1:c.2115T>C	XP_011511778.1:p.Phe705=
XM_011513476.3:c.2115T>C	XP_011511778.1:p.Phe705=
XM_011513477.1:c.1101T>C	XP_011511779.1:p.Phe367=
XM_011513478.1:c.825T>C	XP_011511780.1:p.Phe275=
XM_011513478.2:c.825T>C	XP_011511780.1:p.Phe275=
XM_017008284.1:c.1059T>C	XP_016863773.1:p.Phe353=
XM_017008285.1:c.1059T>C	XP_016863774.1:p.Phe353=
XM_017008286.1:c.1059T>C	XP_016863775.1:p.Phe353=
XR_925029.1:n.195+39A>G