Canonical Allele Identifier: CA2794912
Gene: PDE6B HGNC NCBI

Linked Data

ClinVar Variation Id: 287073
dbSNP Id: rs150639487
gnomAD v2: 4-658692-G-A
gnomAD v3: 4-664903-G-A
gnomAD v4: 4-664903-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.664903G>A , CM000666.2:g.664903G>A GRCh38
NC_000004.11:g.658692G>A , CM000666.1:g.658692G>A GRCh37
NC_000004.10:g.648692G>A NCBI36
NG_009839.1:g.44330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.2152G>A MANE Select ENSP00000420295.1:p.Asp718Asn
ENST00000255622.10:c.2152G>A ENSP00000255622.6:p.Asp718Asn
ENST00000429163.6:c.1315G>A ENSP00000406334.2:p.Asp439Asn
ENST00000460119.1:n.522G>A
ENST00000471824.6:c.232G>A ENSP00000417852.2:p.Asp78Asn
ENST00000496514.5:c.2152G>A ENSP00000420295.1:p.Asp718Asn
NM_000283.3:c.2152G>A NP_000274.2:p.Asp718Asn
NM_001145291.1:c.2152G>A NP_001138763.1:p.Asp718Asn
NM_001145292.1:c.1315G>A NP_001138764.1:p.Asp439Asn
XM_011513473.1:c.2371G>A XP_011511775.1:p.Asp791Asn
XM_011513474.1:c.2371G>A XP_011511776.1:p.Asp791Asn
XM_011513475.1:c.2152G>A XP_011511777.1:p.Asp718Asn
XM_011513476.1:c.2371G>A XP_011511778.1:p.Asp791Asn
XM_011513477.1:c.1357G>A XP_011511779.1:p.Asp453Asn
XM_011513478.1:c.1081G>A XP_011511780.1:p.Asp361Asn
NM_001350154.1:c.1315G>A NP_001337083.1:p.Asp439Asn
NM_001350155.1:c.997G>A NP_001337084.1:p.Asp333Asn
XM_011513473.3:c.2371G>A XP_011511775.1:p.Asp791Asn
XM_011513474.3:c.2371G>A XP_011511776.1:p.Asp791Asn
XM_011513475.2:c.2152G>A XP_011511777.1:p.Asp718Asn
XM_011513476.3:c.2371G>A XP_011511778.1:p.Asp791Asn
XM_011513478.2:c.1081G>A XP_011511780.1:p.Asp361Asn
XM_017008284.1:c.1315G>A XP_016863773.1:p.Asp439Asn
XM_017008285.1:c.1315G>A XP_016863774.1:p.Asp439Asn
XM_017008286.1:c.1315G>A XP_016863775.1:p.Asp439Asn
NM_001350154.2:c.1315G>A NP_001337083.1:p.Asp439Asn
NM_001350155.2:c.997G>A NP_001337084.1:p.Asp333Asn
NM_000283.4:c.2152G>A MANE Select NP_000274.3:p.Asp718Asn
NM_001145291.2:c.2152G>A NP_001138763.2:p.Asp718Asn
NM_001145292.2:c.1315G>A NP_001138764.2:p.Asp439Asn
NM_001350154.3:c.1315G>A NP_001337083.1:p.Asp439Asn
NM_001350155.3:c.997G>A NP_001337084.1:p.Asp333Asn
NM_001379246.1:c.1315G>A NP_001366175.1:p.Asp439Asn
NM_001379247.1:c.1315G>A NP_001366176.1:p.Asp439Asn