Canonical Allele Identifier: CA355917189
Gene: PDE6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.662510C>A , CM000666.2:g.662510C>A GRCh38
NC_000004.11:g.656299C>A , CM000666.1:g.656299C>A GRCh37
NC_000004.10:g.646299C>A NCBI36
NG_009839.1:g.41937C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1724C>A MANE Select ENSP00000420295.1:p.Thr575Asn
ENST00000255622.10:c.1724C>A ENSP00000255622.6:p.Thr575Asn
ENST00000429163.6:c.887C>A ENSP00000406334.2:p.Thr296Asn
ENST00000496514.5:c.1724C>A ENSP00000420295.1:p.Thr575Asn
NM_000283.3:c.1724C>A NP_000274.2:p.Thr575Asn
NM_001145291.1:c.1724C>A NP_001138763.1:p.Thr575Asn
NM_001145292.1:c.887C>A NP_001138764.1:p.Thr296Asn
XM_011513473.1:c.1943C>A XP_011511775.1:p.Thr648Asn
XM_011513474.1:c.1943C>A XP_011511776.1:p.Thr648Asn
XM_011513475.1:c.1724C>A XP_011511777.1:p.Thr575Asn
XM_011513476.1:c.1943C>A XP_011511778.1:p.Thr648Asn
XM_011513477.1:c.929C>A XP_011511779.1:p.Thr310Asn
XM_011513478.1:c.653C>A XP_011511780.1:p.Thr218Asn
XR_925029.1:n.261+29G>T
NM_001350154.1:c.887C>A NP_001337083.1:p.Thr296Asn
NM_001350155.1:c.569C>A NP_001337084.1:p.Thr190Asn
XM_011513473.3:c.1943C>A XP_011511775.1:p.Thr648Asn
XM_011513474.3:c.1943C>A XP_011511776.1:p.Thr648Asn
XM_011513475.2:c.1724C>A XP_011511777.1:p.Thr575Asn
XM_011513476.3:c.1943C>A XP_011511778.1:p.Thr648Asn
XM_011513478.2:c.653C>A XP_011511780.1:p.Thr218Asn
XM_017008284.1:c.887C>A XP_016863773.1:p.Thr296Asn
XM_017008285.1:c.887C>A XP_016863774.1:p.Thr296Asn
XM_017008286.1:c.887C>A XP_016863775.1:p.Thr296Asn
NM_001350154.2:c.887C>A NP_001337083.1:p.Thr296Asn
NM_001350155.2:c.569C>A NP_001337084.1:p.Thr190Asn
NM_000283.4:c.1724C>A MANE Select NP_000274.3:p.Thr575Asn
NM_001145291.2:c.1724C>A NP_001138763.2:p.Thr575Asn
NM_001145292.2:c.887C>A NP_001138764.2:p.Thr296Asn
NM_001350154.3:c.887C>A NP_001337083.1:p.Thr296Asn
NM_001350155.3:c.569C>A NP_001337084.1:p.Thr190Asn
NM_001379246.1:c.887C>A NP_001366175.1:p.Thr296Asn
NM_001379247.1:c.887C>A NP_001366176.1:p.Thr296Asn