Canonical Allele Identifier: CA355919716

Gene: PDE6B

Linked Data

• MyVariant Identifiers: chr4:g.658708C>T (hg19) ; chr4:g.664919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664919C>T , CM000666.2:g.664919C>T	GRCh38
NC_000004.11:g.658708C>T , CM000666.1:g.658708C>T	GRCh37
NC_000004.10:g.648708C>T	NCBI36
NG_009839.1:g.44346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2168C>T MANE Select	ENSP00000420295.1:p.Thr723Ile
ENST00000255622.10:c.2168C>T	ENSP00000255622.6:p.Thr723Ile
ENST00000429163.6:c.1331C>T	ENSP00000406334.2:p.Thr444Ile
ENST00000460119.1:n.538C>T
ENST00000461490.1:c.10C>T
ENST00000471824.6:c.248C>T	ENSP00000417852.2:p.Thr83Ile
ENST00000496514.5:c.2168C>T	ENSP00000420295.1:p.Thr723Ile
NM_000283.3:c.2168C>T	NP_000274.2:p.Thr723Ile
NM_001145291.1:c.2168C>T	NP_001138763.1:p.Thr723Ile
NM_001145292.1:c.1331C>T	NP_001138764.1:p.Thr444Ile
XM_011513473.1:c.2387C>T	XP_011511775.1:p.Thr796Ile
XM_011513474.1:c.2387C>T	XP_011511776.1:p.Thr796Ile
XM_011513475.1:c.2168C>T	XP_011511777.1:p.Thr723Ile
XM_011513476.1:c.2387C>T	XP_011511778.1:p.Thr796Ile
XM_011513477.1:c.1373C>T	XP_011511779.1:p.Thr458Ile
XM_011513478.1:c.1097C>T	XP_011511780.1:p.Thr366Ile
NM_001350154.1:c.1331C>T	NP_001337083.1:p.Thr444Ile
NM_001350155.1:c.1013C>T	NP_001337084.1:p.Thr338Ile
XM_011513473.3:c.2387C>T	XP_011511775.1:p.Thr796Ile
XM_011513474.3:c.2387C>T	XP_011511776.1:p.Thr796Ile
XM_011513475.2:c.2168C>T	XP_011511777.1:p.Thr723Ile
XM_011513476.3:c.2387C>T	XP_011511778.1:p.Thr796Ile
XM_011513478.2:c.1097C>T	XP_011511780.1:p.Thr366Ile
XM_017008284.1:c.1331C>T	XP_016863773.1:p.Thr444Ile
XM_017008285.1:c.1331C>T	XP_016863774.1:p.Thr444Ile
XM_017008286.1:c.1331C>T	XP_016863775.1:p.Thr444Ile
NM_001350154.2:c.1331C>T	NP_001337083.1:p.Thr444Ile
NM_001350155.2:c.1013C>T	NP_001337084.1:p.Thr338Ile
NM_000283.4:c.2168C>T MANE Select	NP_000274.3:p.Thr723Ile
NM_001145291.2:c.2168C>T	NP_001138763.2:p.Thr723Ile
NM_001145292.2:c.1331C>T	NP_001138764.2:p.Thr444Ile
NM_001350154.3:c.1331C>T	NP_001337083.1:p.Thr444Ile
NM_001350155.3:c.1013C>T	NP_001337084.1:p.Thr338Ile
NM_001379246.1:c.1331C>T	NP_001366175.1:p.Thr444Ile
NM_001379247.1:c.1331C>T	NP_001366176.1:p.Thr444Ile