Canonical Allele Identifier: CA355917549

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 866150
• ClinVar RCV Id: RCV001073937 ; RCV001862525
• dbSNP Id: rs1737239664
• gnomAD v4: 4-662596-A-T
• MyVariant Identifiers: chr4:g.656385A>T (hg19) ; chr4:g.662596A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662596A>T , CM000666.2:g.662596A>T	GRCh38
NC_000004.11:g.656385A>T , CM000666.1:g.656385A>T	GRCh37
NC_000004.10:g.646385A>T	NCBI36
NG_009839.1:g.42023A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1810A>T MANE Select	ENSP00000420295.1:p.Thr604Ser
ENST00000255622.10:c.1810A>T	ENSP00000255622.6:p.Thr604Ser
ENST00000429163.6:c.973A>T	ENSP00000406334.2:p.Thr325Ser
ENST00000496514.5:c.1810A>T	ENSP00000420295.1:p.Thr604Ser
NM_000283.3:c.1810A>T	NP_000274.2:p.Thr604Ser
NM_001145291.1:c.1810A>T	NP_001138763.1:p.Thr604Ser
NM_001145292.1:c.973A>T	NP_001138764.1:p.Thr325Ser
XM_011513473.1:c.2029A>T	XP_011511775.1:p.Thr677Ser
XM_011513474.1:c.2029A>T	XP_011511776.1:p.Thr677Ser
XM_011513475.1:c.1810A>T	XP_011511777.1:p.Thr604Ser
XM_011513476.1:c.2029A>T	XP_011511778.1:p.Thr677Ser
XM_011513477.1:c.1015A>T	XP_011511779.1:p.Thr339Ser
XM_011513478.1:c.739A>T	XP_011511780.1:p.Thr247Ser
XR_925029.1:n.204T>A
NM_001350154.1:c.973A>T	NP_001337083.1:p.Thr325Ser
NM_001350155.1:c.655A>T	NP_001337084.1:p.Thr219Ser
XM_011513473.3:c.2029A>T	XP_011511775.1:p.Thr677Ser
XM_011513474.3:c.2029A>T	XP_011511776.1:p.Thr677Ser
XM_011513475.2:c.1810A>T	XP_011511777.1:p.Thr604Ser
XM_011513476.3:c.2029A>T	XP_011511778.1:p.Thr677Ser
XM_011513478.2:c.739A>T	XP_011511780.1:p.Thr247Ser
XM_017008284.1:c.973A>T	XP_016863773.1:p.Thr325Ser
XM_017008285.1:c.973A>T	XP_016863774.1:p.Thr325Ser
XM_017008286.1:c.973A>T	XP_016863775.1:p.Thr325Ser
NM_001350154.2:c.973A>T	NP_001337083.1:p.Thr325Ser
NM_001350155.2:c.655A>T	NP_001337084.1:p.Thr219Ser
NM_000283.4:c.1810A>T MANE Select	NP_000274.3:p.Thr604Ser
NM_001145291.2:c.1810A>T	NP_001138763.2:p.Thr604Ser
NM_001145292.2:c.973A>T	NP_001138764.2:p.Thr325Ser
NM_001350154.3:c.973A>T	NP_001337083.1:p.Thr325Ser
NM_001350155.3:c.655A>T	NP_001337084.1:p.Thr219Ser
NM_001379246.1:c.973A>T	NP_001366175.1:p.Thr325Ser
NM_001379247.1:c.973A>T	NP_001366176.1:p.Thr325Ser