Canonical Allele Identifier: CA355917073
Gene: PDE6B HGNC NCBI

Linked Data

gnomAD v4: 4-662230-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.662230A>G , CM000666.2:g.662230A>G GRCh38
NC_000004.11:g.656019A>G , CM000666.1:g.656019A>G GRCh37
NC_000004.10:g.646019A>G NCBI36
NG_009839.1:g.41657A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1711A>G MANE Select ENSP00000420295.1:p.Thr571Ala
ENST00000255622.10:c.1711A>G ENSP00000255622.6:p.Thr571Ala
ENST00000429163.6:c.874A>G ENSP00000406334.2:p.Thr292Ala
ENST00000496514.5:c.1711A>G ENSP00000420295.1:p.Thr571Ala
NM_000283.3:c.1711A>G NP_000274.2:p.Thr571Ala
NM_001145291.1:c.1711A>G NP_001138763.1:p.Thr571Ala
NM_001145292.1:c.874A>G NP_001138764.1:p.Thr292Ala
XM_011513473.1:c.1930A>G XP_011511775.1:p.Thr644Ala
XM_011513474.1:c.1930A>G XP_011511776.1:p.Thr644Ala
XM_011513475.1:c.1711A>G XP_011511777.1:p.Thr571Ala
XM_011513476.1:c.1930A>G XP_011511778.1:p.Thr644Ala
XM_011513477.1:c.916A>G XP_011511779.1:p.Thr306Ala
XM_011513478.1:c.640A>G XP_011511780.1:p.Thr214Ala
XR_925029.1:n.313T>C
NM_001350154.1:c.874A>G NP_001337083.1:p.Thr292Ala
NM_001350155.1:c.556A>G NP_001337084.1:p.Thr186Ala
XM_011513473.3:c.1930A>G XP_011511775.1:p.Thr644Ala
XM_011513474.3:c.1930A>G XP_011511776.1:p.Thr644Ala
XM_011513475.2:c.1711A>G XP_011511777.1:p.Thr571Ala
XM_011513476.3:c.1930A>G XP_011511778.1:p.Thr644Ala
XM_011513478.2:c.640A>G XP_011511780.1:p.Thr214Ala
XM_017008284.1:c.874A>G XP_016863773.1:p.Thr292Ala
XM_017008285.1:c.874A>G XP_016863774.1:p.Thr292Ala
XM_017008286.1:c.874A>G XP_016863775.1:p.Thr292Ala
NM_001350154.2:c.874A>G NP_001337083.1:p.Thr292Ala
NM_001350155.2:c.556A>G NP_001337084.1:p.Thr186Ala
NM_000283.4:c.1711A>G MANE Select NP_000274.3:p.Thr571Ala
NM_001145291.2:c.1711A>G NP_001138763.2:p.Thr571Ala
NM_001145292.2:c.874A>G NP_001138764.2:p.Thr292Ala
NM_001350154.3:c.874A>G NP_001337083.1:p.Thr292Ala
NM_001350155.3:c.556A>G NP_001337084.1:p.Thr186Ala
NM_001379246.1:c.874A>G NP_001366175.1:p.Thr292Ala
NM_001379247.1:c.874A>G NP_001366176.1:p.Thr292Ala