Canonical Allele Identifier: CA220605

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 92767
• ClinVar RCV Id: RCV000078554 ; RCV000778735 ; RCV001151258 ; RCV001074335
• dbSNP Id: rs398123299
• ExAC: 4:619728 G / A
• gnomAD v2: 4-619728-G-A
• gnomAD v3: 4-625939-G-A
• gnomAD v4: 4-625939-G-A
• MyVariant Identifiers: chr4:g.619728G>A (hg19) ; chr4:g.625939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625939G>A , CM000666.2:g.625939G>A	GRCh38
NC_000004.11:g.619728G>A , CM000666.1:g.619728G>A	GRCh37
NC_000004.10:g.609728G>A	NCBI36
NG_009839.1:g.5366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.313G>A MANE Select	ENSP00000420295.1:p.Glu105Lys
ENST00000255622.10:c.313G>A	ENSP00000255622.6:p.Glu105Lys
ENST00000496514.5:c.313G>A	ENSP00000420295.1:p.Glu105Lys
NM_000283.3:c.313G>A	NP_000274.2:p.Glu105Lys
NM_001145291.1:c.313G>A	NP_001138763.1:p.Glu105Lys
XM_011513473.1:c.532G>A	XP_011511775.1:p.Glu178Lys
XM_011513474.1:c.532G>A	XP_011511776.1:p.Glu178Lys
XM_011513475.1:c.313G>A	XP_011511777.1:p.Glu105Lys
XM_011513476.1:c.532G>A	XP_011511778.1:p.Glu178Lys
XM_011513473.3:c.532G>A	XP_011511775.1:p.Glu178Lys
XM_011513474.3:c.532G>A	XP_011511776.1:p.Glu178Lys
XM_011513475.2:c.313G>A	XP_011511777.1:p.Glu105Lys
XM_011513476.3:c.532G>A	XP_011511778.1:p.Glu178Lys
NM_000283.4:c.313G>A MANE Select	NP_000274.3:p.Glu105Lys
NM_001145291.2:c.313G>A	NP_001138763.2:p.Glu105Lys