Canonical Allele Identifier: CA2760112058

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.665108T>A , CM000666.2:g.665108T>A	GRCh38
NC_000004.11:g.658897T>A , CM000666.1:g.658897T>A	GRCh37
NC_000004.10:g.648897T>A	NCBI36
NG_009839.1:g.44535T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2194-147T>A MANE Select	ENSP00000420295.1:n.2194-147T>A
ENST00000255622.10:c.2194-147T>A	ENSP00000255622.6:n.2194-147T>A
ENST00000429163.6:c.1357-147T>A	ENSP00000406334.2:n.1357-147T>A
ENST00000461490.1:c.36-147T>A
ENST00000471824.6:c.274-147T>A	ENSP00000417852.2:n.274-147T>A
ENST00000496514.5:c.2194-147T>A	ENSP00000420295.1:n.2194-147T>A
NM_000283.3:c.2194-147T>A	NP_000274.2:n.2194-147T>A
NM_001145291.1:c.2194-147T>A	NP_001138763.1:n.2194-147T>A
NM_001145292.1:c.1357-147T>A	NP_001138764.1:n.1357-147T>A
XM_011513473.1:c.2413-147T>A	XP_011511775.1:n.2413-147T>A
XM_011513474.1:c.2413-147T>A	XP_011511776.1:n.2413-147T>A
XM_011513475.1:c.2194-147T>A	XP_011511777.1:n.2194-147T>A
XM_011513476.1:c.2413-147T>A	XP_011511778.1:n.2413-147T>A
XM_011513477.1:c.1399-147T>A	XP_011511779.1:n.1399-147T>A
XM_011513478.1:c.1123-147T>A	XP_011511780.1:n.1123-147T>A
NM_001350154.1:c.1357-147T>A	NP_001337083.1:n.1357-147T>A
NM_001350155.1:c.1039-147T>A	NP_001337084.1:n.1039-147T>A
XM_011513473.3:c.2413-147T>A	XP_011511775.1:n.2413-147T>A
XM_011513474.3:c.2413-147T>A	XP_011511776.1:n.2413-147T>A
XM_011513475.2:c.2194-147T>A	XP_011511777.1:n.2194-147T>A
XM_011513476.3:c.2413-147T>A	XP_011511778.1:n.2413-147T>A
XM_011513478.2:c.1123-147T>A	XP_011511780.1:n.1123-147T>A
XM_017008284.1:c.1357-147T>A	XP_016863773.1:n.1357-147T>A
XM_017008285.1:c.1357-147T>A	XP_016863774.1:n.1357-147T>A
XM_017008286.1:c.1357-147T>A	XP_016863775.1:n.1357-147T>A
NM_001350154.2:c.1357-147T>A	NP_001337083.1:n.1357-147T>A
NM_001350155.2:c.1039-147T>A	NP_001337084.1:n.1039-147T>A
NM_000283.4:c.2194-147T>A MANE Select	NP_000274.3:n.2194-147T>A
NM_001145291.2:c.2194-147T>A	NP_001138763.2:n.2194-147T>A
NM_001145292.2:c.1357-147T>A	NP_001138764.2:n.1357-147T>A
NM_001350154.3:c.1357-147T>A	NP_001337083.1:n.1357-147T>A
NM_001350155.3:c.1039-147T>A	NP_001337084.1:n.1039-147T>A
NM_001379246.1:c.1357-147T>A	NP_001366175.1:n.1357-147T>A
NM_001379247.1:c.1357-147T>A	NP_001366176.1:n.1357-147T>A