Canonical Allele Identifier: CA279322

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 191354
• ClinVar RCV Id: RCV000201503 ; RCV001268564
• dbSNP Id: rs863223339
• MyVariant Identifiers: chr4:g.650033G>T (hg19) ; chr4:g.656244G>T (hg38)
• PubMed: PMID:26497376

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.656244G>T , CM000666.2:g.656244G>T	GRCh38
NC_000004.11:g.650033G>T , CM000666.1:g.650033G>T	GRCh37
NC_000004.10:g.640033G>T	NCBI36
NG_009839.1:g.35671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1060-1G>T MANE Select	ENSP00000420295.1:n.1060-1G>T
ENST00000255622.10:c.1060-1G>T	ENSP00000255622.6:n.1060-1G>T
ENST00000429163.6:c.223-1G>T	ENSP00000406334.2:n.223-1G>T
ENST00000487902.5:c.222+238G>T	ENSP00000418256.1:n.222+238G>T
ENST00000496514.5:c.1060-1G>T	ENSP00000420295.1:n.1060-1G>T
NM_000283.3:c.1060-1G>T	NP_000274.2:n.1060-1G>T
NM_001145291.1:c.1060-1G>T	NP_001138763.1:n.1060-1G>T
NM_001145292.1:c.223-1G>T	NP_001138764.1:n.223-1G>T
XM_011513473.1:c.1279-1G>T	XP_011511775.1:n.1279-1G>T
XM_011513474.1:c.1279-1G>T	XP_011511776.1:n.1279-1G>T
XM_011513475.1:c.1060-1G>T	XP_011511777.1:n.1060-1G>T
XM_011513476.1:c.1279-1G>T	XP_011511778.1:n.1279-1G>T
XM_011513477.1:c.265-1G>T	XP_011511779.1:n.265-1G>T
XM_011513478.1:c.-12-1G>T	XP_011511780.1:n.-12-1G>T
NM_001350154.1:c.223-1G>T	NP_001337083.1:n.223-1G>T
NM_001350155.1:c.-48-630G>T	NP_001337084.1:n.-48-630G>T
XM_011513473.3:c.1279-1G>T	XP_011511775.1:n.1279-1G>T
XM_011513474.3:c.1279-1G>T	XP_011511776.1:n.1279-1G>T
XM_011513475.2:c.1060-1G>T	XP_011511777.1:n.1060-1G>T
XM_011513476.3:c.1279-1G>T	XP_011511778.1:n.1279-1G>T
XM_011513478.2:c.-12-1G>T	XP_011511780.1:n.-12-1G>T
XM_017008284.1:c.223-1G>T	XP_016863773.1:n.223-1G>T
XM_017008285.1:c.223-1G>T	XP_016863774.1:n.223-1G>T
XM_017008286.1:c.223-1G>T	XP_016863775.1:n.223-1G>T
NM_001350154.2:c.223-1G>T	NP_001337083.1:n.223-1G>T
NM_001350155.2:c.-48-630G>T	NP_001337084.1:n.-48-630G>T
NM_000283.4:c.1060-1G>T MANE Select	NP_000274.3:n.1060-1G>T
NM_001145291.2:c.1060-1G>T	NP_001138763.2:n.1060-1G>T
NM_001145292.2:c.223-1G>T	NP_001138764.2:n.223-1G>T
NM_001350154.3:c.223-1G>T	NP_001337083.1:n.223-1G>T
NM_001350155.3:c.-48-630G>T	NP_001337084.1:n.-48-630G>T
NM_001379246.1:c.223-1G>T	NP_001366175.1:n.223-1G>T
NM_001379247.1:c.223-1G>T	NP_001366176.1:n.223-1G>T