Canonical Allele Identifier: CA355918566
Community Standard Title: NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly)
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.663852A>G , CM000666.2:g.663852A>G GRCh38
NC_000004.11:g.657641A>G , CM000666.1:g.657641A>G GRCh37
NC_000004.10:g.647641A>G NCBI36
NG_009839.1:g.43279A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000283.4:c.2003A>G MANE Select NP_000274.3:p.Asp668Gly
ENST00000496514.6:c.2003A>G MANE Select ENSP00000420295.1:p.Asp668Gly
NM_000283.3:c.2003A>G NP_000274.2:p.Asp668Gly
NM_001145291.1:c.2003A>G NP_001138763.1:p.Asp668Gly
NM_001145291.2:c.2003A>G NP_001138763.2:p.Asp668Gly
NM_001145292.1:c.1166A>G NP_001138764.1:p.Asp389Gly
NM_001145292.2:c.1166A>G NP_001138764.2:p.Asp389Gly
NM_001350154.1:c.1166A>G NP_001337083.1:p.Asp389Gly
NM_001350154.2:c.1166A>G NP_001337083.1:p.Asp389Gly
NM_001350154.3:c.1166A>G NP_001337083.1:p.Asp389Gly
NM_001350155.1:c.848A>G NP_001337084.1:p.Asp283Gly
NM_001350155.2:c.848A>G NP_001337084.1:p.Asp283Gly
NM_001350155.3:c.848A>G NP_001337084.1:p.Asp283Gly
NM_001379246.1:c.1166A>G NP_001366175.1:p.Asp389Gly
NM_001379247.1:c.1166A>G NP_001366176.1:p.Asp389Gly
ENST00000255622.10:c.2003A>G ENSP00000255622.6:p.Asp668Gly
ENST00000429163.6:c.1166A>G ENSP00000406334.2:p.Asp389Gly
ENST00000460119.1:n.130A>G
ENST00000471824.6:c.83A>G ENSP00000417852.2:p.Asp28Gly
ENST00000496514.5:c.2003A>G ENSP00000420295.1:p.Asp668Gly
XM_011513473.1:c.2222A>G XP_011511775.1:p.Asp741Gly
XM_011513473.3:c.2222A>G XP_011511775.1:p.Asp741Gly
XM_011513474.1:c.2222A>G XP_011511776.1:p.Asp741Gly
XM_011513474.3:c.2222A>G XP_011511776.1:p.Asp741Gly
XM_011513475.1:c.2003A>G XP_011511777.1:p.Asp668Gly
XM_011513475.2:c.2003A>G XP_011511777.1:p.Asp668Gly
XM_011513476.1:c.2222A>G XP_011511778.1:p.Asp741Gly
XM_011513476.3:c.2222A>G XP_011511778.1:p.Asp741Gly
XM_011513477.1:c.1208A>G XP_011511779.1:p.Asp403Gly
XM_011513478.1:c.932A>G XP_011511780.1:p.Asp311Gly
XM_011513478.2:c.932A>G XP_011511780.1:p.Asp311Gly
XM_017008284.1:c.1166A>G XP_016863773.1:p.Asp389Gly
XM_017008285.1:c.1166A>G XP_016863774.1:p.Asp389Gly
XM_017008286.1:c.1166A>G XP_016863775.1:p.Asp389Gly
XR_925029.1:n.87+234T>C