Canonical Allele Identifier: CA10619046

Gene: PDE6B PDE6B-AS1

Linked Data

• ClinVar Variation Id: 349369
• ClinVar RCV Id: RCV000339413 ; RCV000407941 ; RCV002057942
• dbSNP Id: rs754298712
• gnomAD v4: 4-655973-C-T
• MyVariant Identifiers: chr4:g.649762C>T (hg19) ; chr4:g.655973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.655973C>T , CM000666.2:g.655973C>T	GRCh38
NC_000004.11:g.649762C>T , CM000666.1:g.649762C>T	GRCh37
NC_000004.10:g.639762C>T	NCBI36
NG_009839.1:g.35400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1026C>T (PDE6B) MANE Select	ENSP00000420295.1:p.Ser342=
ENST00000255622.10:c.1026C>T (PDE6B)	ENSP00000255622.6:p.Ser342=
ENST00000429163.6:c.189C>T (PDE6B)	ENSP00000406334.2:p.Ser63=
ENST00000487902.5:c.189C>T (PDE6B)	ENSP00000418256.1:p.Ser63=
ENST00000496514.5:c.1026C>T (PDE6B)	ENSP00000420295.1:p.Ser342=
NM_000283.3:c.1026C>T (PDE6B)	NP_000274.2:p.Ser342=
NM_001145291.1:c.1026C>T (PDE6B)	NP_001138763.1:p.Ser342=
NM_001145292.1:c.189C>T (PDE6B)	NP_001138764.1:p.Ser63=
XM_011513473.1:c.1245C>T (PDE6B)	XP_011511775.1:p.Ser415=
XM_011513474.1:c.1245C>T (PDE6B)	XP_011511776.1:p.Ser415=
XM_011513475.1:c.1026C>T (PDE6B)	XP_011511777.1:p.Ser342=
XM_011513476.1:c.1245C>T (PDE6B)	XP_011511778.1:p.Ser415=
XM_011513477.1:c.265-272C>T (PDE6B)	XP_011511779.1:n.265-272C>T
XM_011513478.1:c.-46C>T (PDE6B)	XP_011511780.1:n.-46C>T
NM_001350154.1:c.189C>T (PDE6B)	NP_001337083.1:p.Ser63=
NM_001350155.1:c.-48-901C>T (PDE6B)	NP_001337084.1:n.-48-901C>T
XM_011513473.3:c.1245C>T (PDE6B)	XP_011511775.1:p.Ser415=
XM_011513474.3:c.1245C>T (PDE6B)	XP_011511776.1:p.Ser415=
XM_011513475.2:c.1026C>T (PDE6B)	XP_011511777.1:p.Ser342=
XM_011513476.3:c.1245C>T (PDE6B)	XP_011511778.1:p.Ser415=
XM_011513478.2:c.-46C>T (PDE6B)	XP_011511780.1:n.-46C>T
XM_017008284.1:c.189C>T (PDE6B)	XP_016863773.1:p.Ser63=
XM_017008285.1:c.189C>T (PDE6B)	XP_016863774.1:p.Ser63=
XM_017008286.1:c.189C>T (PDE6B)	XP_016863775.1:p.Ser63=
XR_001741541.1:n.216G>A (PDE6B-AS1)
XR_246615.3:n.216G>A (PDE6B-AS1)
NM_001350154.2:c.189C>T (PDE6B)	NP_001337083.1:p.Ser63=
NM_001350155.2:c.-48-901C>T (PDE6B)	NP_001337084.1:n.-48-901C>T
NM_000283.4:c.1026C>T (PDE6B) MANE Select	NP_000274.3:p.Ser342=
NM_001145291.2:c.1026C>T (PDE6B)	NP_001138763.2:p.Ser342=
NM_001145292.2:c.189C>T (PDE6B)	NP_001138764.2:p.Ser63=
NM_001350154.3:c.189C>T (PDE6B)	NP_001337083.1:p.Ser63=
NM_001350155.3:c.-48-901C>T (PDE6B)	NP_001337084.1:n.-48-901C>T
NM_001379246.1:c.189C>T (PDE6B)	NP_001366175.1:p.Ser63=
NM_001379247.1:c.189C>T (PDE6B)	NP_001366176.1:p.Ser63=