Canonical Allele Identifier: CA2793852

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 349288
• ClinVar RCV Id: RCV000298325 ; RCV000341531 ; RCV001320505 ; RCV003888829
• dbSNP Id: rs138423108
• ExAC: 4:619548 G / A
• gnomAD v2: 4-619548-G-A
• gnomAD v3: 4-625759-G-A
• gnomAD v4: 4-625759-G-A
• MyVariant Identifiers: chr4:g.619548G>A (hg19) ; chr4:g.625759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625759G>A , CM000666.2:g.625759G>A	GRCh38
NC_000004.11:g.619548G>A , CM000666.1:g.619548G>A	GRCh37
NC_000004.10:g.609548G>A	NCBI36
NG_009839.1:g.5186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.133G>A MANE Select	ENSP00000420295.1:p.Asp45Asn
ENST00000255622.10:c.133G>A	ENSP00000255622.6:p.Asp45Asn
ENST00000496514.5:c.133G>A	ENSP00000420295.1:p.Asp45Asn
NM_000283.3:c.133G>A	NP_000274.2:p.Asp45Asn
NM_001145291.1:c.133G>A	NP_001138763.1:p.Asp45Asn
XM_011513473.1:c.352G>A	XP_011511775.1:p.Asp118Asn
XM_011513474.1:c.352G>A	XP_011511776.1:p.Asp118Asn
XM_011513475.1:c.133G>A	XP_011511777.1:p.Asp45Asn
XM_011513476.1:c.352G>A	XP_011511778.1:p.Asp118Asn
XM_011513473.3:c.352G>A	XP_011511775.1:p.Asp118Asn
XM_011513474.3:c.352G>A	XP_011511776.1:p.Asp118Asn
XM_011513475.2:c.133G>A	XP_011511777.1:p.Asp45Asn
XM_011513476.3:c.352G>A	XP_011511778.1:p.Asp118Asn
NM_000283.4:c.133G>A MANE Select	NP_000274.3:p.Asp45Asn
NM_001145291.2:c.133G>A	NP_001138763.2:p.Asp45Asn