Canonical Allele Identifier: CA355918672

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.663872T>G , CM000666.2:g.663872T>G	GRCh38
NC_000004.11:g.657661T>G , CM000666.1:g.657661T>G	GRCh37
NC_000004.10:g.647661T>G	NCBI36
NG_009839.1:g.43299T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.4:c.2021+2T>G MANE Select	NP_000274.3:n.2021+2T>G
ENST00000496514.6:c.2021+2T>G MANE Select	ENSP00000420295.1:n.2021+2T>G
NM_000283.3:c.2021+2T>G	NP_000274.2:n.2021+2T>G
NM_001145291.1:c.2021+2T>G	NP_001138763.1:n.2021+2T>G
NM_001145291.2:c.2021+2T>G	NP_001138763.2:n.2021+2T>G
NM_001145292.1:c.1184+2T>G	NP_001138764.1:n.1184+2T>G
NM_001145292.2:c.1184+2T>G	NP_001138764.2:n.1184+2T>G
NM_001350154.1:c.1184+2T>G	NP_001337083.1:n.1184+2T>G
NM_001350154.2:c.1184+2T>G	NP_001337083.1:n.1184+2T>G
NM_001350154.3:c.1184+2T>G	NP_001337083.1:n.1184+2T>G
NM_001350155.1:c.866+2T>G	NP_001337084.1:n.866+2T>G
NM_001350155.2:c.866+2T>G	NP_001337084.1:n.866+2T>G
NM_001350155.3:c.866+2T>G	NP_001337084.1:n.866+2T>G
NM_001379246.1:c.1184+2T>G	NP_001366175.1:n.1184+2T>G
NM_001379247.1:c.1184+2T>G	NP_001366176.1:n.1184+2T>G
ENST00000255622.10:c.2021+2T>G	ENSP00000255622.6:n.2021+2T>G
ENST00000429163.6:c.1184+2T>G	ENSP00000406334.2:n.1184+2T>G
ENST00000460119.1:n.150T>G
ENST00000471824.6:c.101+2T>G	ENSP00000417852.2:n.101+2T>G
ENST00000496514.5:c.2021+2T>G	ENSP00000420295.1:n.2021+2T>G
XM_011513473.1:c.2240+2T>G	XP_011511775.1:n.2240+2T>G
XM_011513473.3:c.2240+2T>G	XP_011511775.1:n.2240+2T>G
XM_011513474.1:c.2240+2T>G	XP_011511776.1:n.2240+2T>G
XM_011513474.3:c.2240+2T>G	XP_011511776.1:n.2240+2T>G
XM_011513475.1:c.2021+2T>G	XP_011511777.1:n.2021+2T>G
XM_011513475.2:c.2021+2T>G	XP_011511777.1:n.2021+2T>G
XM_011513476.1:c.2240+2T>G	XP_011511778.1:n.2240+2T>G
XM_011513476.3:c.2240+2T>G	XP_011511778.1:n.2240+2T>G
XM_011513477.1:c.1226+2T>G	XP_011511779.1:n.1226+2T>G
XM_011513478.1:c.950+2T>G	XP_011511780.1:n.950+2T>G
XM_011513478.2:c.950+2T>G	XP_011511780.1:n.950+2T>G
XM_017008284.1:c.1184+2T>G	XP_016863773.1:n.1184+2T>G
XM_017008285.1:c.1184+2T>G	XP_016863774.1:n.1184+2T>G
XM_017008286.1:c.1184+2T>G	XP_016863775.1:n.1184+2T>G
XR_925029.1:n.87+214A>C