Canonical Allele Identifier: CA355916139
Gene: PDE6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.660545C>G , CM000666.2:g.660545C>G GRCh38
NC_000004.11:g.654334C>G , CM000666.1:g.654334C>G GRCh37
NC_000004.10:g.644334C>G NCBI36
NG_009839.1:g.39972C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1546C>G MANE Select ENSP00000420295.1:p.Leu516Val
ENST00000255622.10:c.1546C>G ENSP00000255622.6:p.Leu516Val
ENST00000429163.6:c.709C>G ENSP00000406334.2:p.Leu237Val
ENST00000496514.5:c.1546C>G ENSP00000420295.1:p.Leu516Val
NM_000283.3:c.1546C>G NP_000274.2:p.Leu516Val
NM_001145291.1:c.1546C>G NP_001138763.1:p.Leu516Val
NM_001145292.1:c.709C>G NP_001138764.1:p.Leu237Val
XM_011513473.1:c.1765C>G XP_011511775.1:p.Leu589Val
XM_011513474.1:c.1765C>G XP_011511776.1:p.Leu589Val
XM_011513475.1:c.1546C>G XP_011511777.1:p.Leu516Val
XM_011513476.1:c.1765C>G XP_011511778.1:p.Leu589Val
XM_011513477.1:c.751C>G XP_011511779.1:p.Leu251Val
XM_011513478.1:c.475C>G XP_011511780.1:p.Leu159Val
NM_001350154.1:c.709C>G NP_001337083.1:p.Leu237Val
NM_001350155.1:c.391C>G NP_001337084.1:p.Leu131Val
XM_011513473.3:c.1765C>G XP_011511775.1:p.Leu589Val
XM_011513474.3:c.1765C>G XP_011511776.1:p.Leu589Val
XM_011513475.2:c.1546C>G XP_011511777.1:p.Leu516Val
XM_011513476.3:c.1765C>G XP_011511778.1:p.Leu589Val
XM_011513478.2:c.475C>G XP_011511780.1:p.Leu159Val
XM_017008284.1:c.709C>G XP_016863773.1:p.Leu237Val
XM_017008285.1:c.709C>G XP_016863774.1:p.Leu237Val
XM_017008286.1:c.709C>G XP_016863775.1:p.Leu237Val
NM_001350154.2:c.709C>G NP_001337083.1:p.Leu237Val
NM_001350155.2:c.391C>G NP_001337084.1:p.Leu131Val
NM_000283.4:c.1546C>G MANE Select NP_000274.3:p.Leu516Val
NM_001145291.2:c.1546C>G NP_001138763.2:p.Leu516Val
NM_001145292.2:c.709C>G NP_001138764.2:p.Leu237Val
NM_001350154.3:c.709C>G NP_001337083.1:p.Leu237Val
NM_001350155.3:c.391C>G NP_001337084.1:p.Leu131Val
NM_001379246.1:c.709C>G NP_001366175.1:p.Leu237Val
NM_001379247.1:c.709C>G NP_001366176.1:p.Leu237Val