Canonical Allele Identifier: CA240006

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 194164
• ClinVar RCV Id: RCV000174465 ; RCV001376288
• dbSNP Id: rs774268095
• ExAC: 4:655993 G / A
• gnomAD v2: 4-655993-G-A
• gnomAD v3: 4-662204-G-A
• gnomAD v4: 4-662204-G-A
• MyVariant Identifiers: chr4:g.655993G>A (hg19) ; chr4:g.662204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662204G>A , CM000666.2:g.662204G>A	GRCh38
NC_000004.11:g.655993G>A , CM000666.1:g.655993G>A	GRCh37
NC_000004.10:g.645993G>A	NCBI36
NG_009839.1:g.41631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1685G>A MANE Select	ENSP00000420295.1:p.Gly562Asp
ENST00000255622.10:c.1685G>A	ENSP00000255622.6:p.Gly562Asp
ENST00000429163.6:c.848G>A	ENSP00000406334.2:p.Gly283Asp
ENST00000496514.5:c.1685G>A	ENSP00000420295.1:p.Gly562Asp
NM_000283.3:c.1685G>A	NP_000274.2:p.Gly562Asp
NM_001145291.1:c.1685G>A	NP_001138763.1:p.Gly562Asp
NM_001145292.1:c.848G>A	NP_001138764.1:p.Gly283Asp
XM_011513473.1:c.1904G>A	XP_011511775.1:p.Gly635Asp
XM_011513474.1:c.1904G>A	XP_011511776.1:p.Gly635Asp
XM_011513475.1:c.1685G>A	XP_011511777.1:p.Gly562Asp
XM_011513476.1:c.1904G>A	XP_011511778.1:p.Gly635Asp
XM_011513477.1:c.890G>A	XP_011511779.1:p.Gly297Asp
XM_011513478.1:c.614G>A	XP_011511780.1:p.Gly205Asp
XR_925029.1:n.339C>T
NM_001350154.1:c.848G>A	NP_001337083.1:p.Gly283Asp
NM_001350155.1:c.530G>A	NP_001337084.1:p.Gly177Asp
XM_011513473.3:c.1904G>A	XP_011511775.1:p.Gly635Asp
XM_011513474.3:c.1904G>A	XP_011511776.1:p.Gly635Asp
XM_011513475.2:c.1685G>A	XP_011511777.1:p.Gly562Asp
XM_011513476.3:c.1904G>A	XP_011511778.1:p.Gly635Asp
XM_011513478.2:c.614G>A	XP_011511780.1:p.Gly205Asp
XM_017008284.1:c.848G>A	XP_016863773.1:p.Gly283Asp
XM_017008285.1:c.848G>A	XP_016863774.1:p.Gly283Asp
XM_017008286.1:c.848G>A	XP_016863775.1:p.Gly283Asp
NM_001350154.2:c.848G>A	NP_001337083.1:p.Gly283Asp
NM_001350155.2:c.530G>A	NP_001337084.1:p.Gly177Asp
NM_000283.4:c.1685G>A MANE Select	NP_000274.3:p.Gly562Asp
NM_001145291.2:c.1685G>A	NP_001138763.2:p.Gly562Asp
NM_001145292.2:c.848G>A	NP_001138764.2:p.Gly283Asp
NM_001350154.3:c.848G>A	NP_001337083.1:p.Gly283Asp
NM_001350155.3:c.530G>A	NP_001337084.1:p.Gly177Asp
NM_001379246.1:c.848G>A	NP_001366175.1:p.Gly283Asp
NM_001379247.1:c.848G>A	NP_001366176.1:p.Gly283Asp