Canonical Allele Identifier: CA2794340
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 438188
dbSNP Id: rs370898371
gnomAD v2: 4-650084-A-G
gnomAD v3: 4-656295-A-G
gnomAD v4: 4-656295-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.656295A>G , CM000666.2:g.656295A>G GRCh38
NC_000004.11:g.650084A>G , CM000666.1:g.650084A>G GRCh37
NC_000004.10:g.640084A>G NCBI36
NG_009839.1:g.35722A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1107+3A>G MANE Select ENSP00000420295.1:n.1107+3A>G
ENST00000255622.10:c.1107+3A>G ENSP00000255622.6:n.1107+3A>G
ENST00000429163.6:c.270+3A>G ENSP00000406334.2:n.270+3A>G
ENST00000487902.5:c.222+289A>G ENSP00000418256.1:n.222+289A>G
ENST00000496514.5:c.1107+3A>G ENSP00000420295.1:n.1107+3A>G
NM_000283.3:c.1107+3A>G NP_000274.2:n.1107+3A>G
NM_001145291.1:c.1107+3A>G NP_001138763.1:n.1107+3A>G
NM_001145292.1:c.270+3A>G NP_001138764.1:n.270+3A>G
XM_011513473.1:c.1326+3A>G XP_011511775.1:n.1326+3A>G
XM_011513474.1:c.1326+3A>G XP_011511776.1:n.1326+3A>G
XM_011513475.1:c.1107+3A>G XP_011511777.1:n.1107+3A>G
XM_011513476.1:c.1326+3A>G XP_011511778.1:n.1326+3A>G
XM_011513477.1:c.312+3A>G XP_011511779.1:n.312+3A>G
XM_011513478.1:c.36+3A>G XP_011511780.1:n.36+3A>G
NM_001350154.1:c.270+3A>G NP_001337083.1:n.270+3A>G
NM_001350155.1:c.-48-579A>G NP_001337084.1:n.-48-579A>G
XM_011513473.3:c.1326+3A>G XP_011511775.1:n.1326+3A>G
XM_011513474.3:c.1326+3A>G XP_011511776.1:n.1326+3A>G
XM_011513475.2:c.1107+3A>G XP_011511777.1:n.1107+3A>G
XM_011513476.3:c.1326+3A>G XP_011511778.1:n.1326+3A>G
XM_011513478.2:c.36+3A>G XP_011511780.1:n.36+3A>G
XM_017008284.1:c.270+3A>G XP_016863773.1:n.270+3A>G
XM_017008285.1:c.270+3A>G XP_016863774.1:n.270+3A>G
XM_017008286.1:c.270+3A>G XP_016863775.1:n.270+3A>G
NM_001350154.2:c.270+3A>G NP_001337083.1:n.270+3A>G
NM_001350155.2:c.-48-579A>G NP_001337084.1:n.-48-579A>G
NM_000283.4:c.1107+3A>G MANE Select NP_000274.3:n.1107+3A>G
NM_001145291.2:c.1107+3A>G NP_001138763.2:n.1107+3A>G
NM_001145292.2:c.270+3A>G NP_001138764.2:n.270+3A>G
NM_001350154.3:c.270+3A>G NP_001337083.1:n.270+3A>G
NM_001350155.3:c.-48-579A>G NP_001337084.1:n.-48-579A>G
NM_001379246.1:c.270+3A>G NP_001366175.1:n.270+3A>G
NM_001379247.1:c.270+3A>G NP_001366176.1:n.270+3A>G