Canonical Allele Identifier: CA2793981

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 349310
• ClinVar RCV Id: RCV000350373 ; RCV000406027 ; RCV000958533 ; RCV003888830
• dbSNP Id: rs115775983
• ExAC: 4:628493 G / A
• gnomAD v2: 4-628493-G-A
• gnomAD v3: 4-634704-G-A
• gnomAD v4: 4-634704-G-A
• MyVariant Identifiers: chr4:g.628493G>A (hg19) ; chr4:g.634704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.634704G>A , CM000666.2:g.634704G>A	GRCh38
NC_000004.11:g.628493G>A , CM000666.1:g.628493G>A	GRCh37
NC_000004.10:g.618493G>A	NCBI36
NG_009839.1:g.14131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.496G>A MANE Select	ENSP00000420295.1:p.Glu166Lys
ENST00000255622.10:c.496G>A	ENSP00000255622.6:p.Glu166Lys
ENST00000496514.5:c.496G>A	ENSP00000420295.1:p.Glu166Lys
NM_000283.3:c.496G>A	NP_000274.2:p.Glu166Lys
NM_001145291.1:c.496G>A	NP_001138763.1:p.Glu166Lys
XM_011513473.1:c.715G>A	XP_011511775.1:p.Glu239Lys
XM_011513474.1:c.715G>A	XP_011511776.1:p.Glu239Lys
XM_011513475.1:c.496G>A	XP_011511777.1:p.Glu166Lys
XM_011513476.1:c.715G>A	XP_011511778.1:p.Glu239Lys
XM_011513473.3:c.715G>A	XP_011511775.1:p.Glu239Lys
XM_011513474.3:c.715G>A	XP_011511776.1:p.Glu239Lys
XM_011513475.2:c.496G>A	XP_011511777.1:p.Glu166Lys
XM_011513476.3:c.715G>A	XP_011511778.1:p.Glu239Lys
NM_000283.4:c.496G>A MANE Select	NP_000274.3:p.Glu166Lys
NM_001145291.2:c.496G>A	NP_001138763.2:p.Glu166Lys