Canonical Allele Identifier: CA355916903
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 636186
dbSNP Id: rs536742386
gnomAD v2: 4-655978-A-G
gnomAD v4: 4-662189-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.662189A>G , CM000666.2:g.662189A>G GRCh38
NC_000004.11:g.655978A>G , CM000666.1:g.655978A>G GRCh37
NC_000004.10:g.645978A>G NCBI36
NG_009839.1:g.41616A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1670A>G MANE Select ENSP00000420295.1:p.His557Arg
ENST00000255622.10:c.1670A>G ENSP00000255622.6:p.His557Arg
ENST00000429163.6:c.833A>G ENSP00000406334.2:p.His278Arg
ENST00000496514.5:c.1670A>G ENSP00000420295.1:p.His557Arg
NM_000283.3:c.1670A>G NP_000274.2:p.His557Arg
NM_001145291.1:c.1670A>G NP_001138763.1:p.His557Arg
NM_001145292.1:c.833A>G NP_001138764.1:p.His278Arg
XM_011513473.1:c.1889A>G XP_011511775.1:p.His630Arg
XM_011513474.1:c.1889A>G XP_011511776.1:p.His630Arg
XM_011513475.1:c.1670A>G XP_011511777.1:p.His557Arg
XM_011513476.1:c.1889A>G XP_011511778.1:p.His630Arg
XM_011513477.1:c.875A>G XP_011511779.1:p.His292Arg
XM_011513478.1:c.599A>G XP_011511780.1:p.His200Arg
XR_925029.1:n.354T>C
NM_001350154.1:c.833A>G NP_001337083.1:p.His278Arg
NM_001350155.1:c.515A>G NP_001337084.1:p.His172Arg
XM_011513473.3:c.1889A>G XP_011511775.1:p.His630Arg
XM_011513474.3:c.1889A>G XP_011511776.1:p.His630Arg
XM_011513475.2:c.1670A>G XP_011511777.1:p.His557Arg
XM_011513476.3:c.1889A>G XP_011511778.1:p.His630Arg
XM_011513478.2:c.599A>G XP_011511780.1:p.His200Arg
XM_017008284.1:c.833A>G XP_016863773.1:p.His278Arg
XM_017008285.1:c.833A>G XP_016863774.1:p.His278Arg
XM_017008286.1:c.833A>G XP_016863775.1:p.His278Arg
NM_001350154.2:c.833A>G NP_001337083.1:p.His278Arg
NM_001350155.2:c.515A>G NP_001337084.1:p.His172Arg
NM_000283.4:c.1670A>G MANE Select NP_000274.3:p.His557Arg
NM_001145291.2:c.1670A>G NP_001138763.2:p.His557Arg
NM_001145292.2:c.833A>G NP_001138764.2:p.His278Arg
NM_001350154.3:c.833A>G NP_001337083.1:p.His278Arg
NM_001350155.3:c.515A>G NP_001337084.1:p.His172Arg
NM_001379246.1:c.833A>G NP_001366175.1:p.His278Arg
NM_001379247.1:c.833A>G NP_001366176.1:p.His278Arg