Canonical Allele Identifier: CA145993

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 92769
• ClinVar RCV Id: RCV000078556 ; RCV000488132 ; RCV000987384 ; RCV001151689
• dbSNP Id: rs62295357
• ExAC: 4:629702 T / C
• gnomAD v2: 4-629702-T-C
• gnomAD v3: 4-635913-T-C
• gnomAD v4: 4-635913-T-C
• MyVariant Identifiers: chr4:g.629702T>C (hg19) ; chr4:g.635913T>C (hg38)
• PubMed: PMID:17846997 ; PMID:22334370

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.635913T>C , CM000666.2:g.635913T>C	GRCh38
NC_000004.11:g.629702T>C , CM000666.1:g.629702T>C	GRCh37
NC_000004.10:g.619702T>C	NCBI36
NG_009839.1:g.15340T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.655T>C MANE Select	ENSP00000420295.1:p.Tyr219His
ENST00000255622.10:c.655T>C	ENSP00000255622.6:p.Tyr219His
ENST00000496514.5:c.655T>C	ENSP00000420295.1:p.Tyr219His
NM_000283.3:c.655T>C	NP_000274.2:p.Tyr219His
NM_001145291.1:c.655T>C	NP_001138763.1:p.Tyr219His
XM_011513473.1:c.874T>C	XP_011511775.1:p.Tyr292His
XM_011513474.1:c.874T>C	XP_011511776.1:p.Tyr292His
XM_011513475.1:c.655T>C	XP_011511777.1:p.Tyr219His
XM_011513476.1:c.874T>C	XP_011511778.1:p.Tyr292His
XM_011513473.3:c.874T>C	XP_011511775.1:p.Tyr292His
XM_011513474.3:c.874T>C	XP_011511776.1:p.Tyr292His
XM_011513475.2:c.655T>C	XP_011511777.1:p.Tyr219His
XM_011513476.3:c.874T>C	XP_011511778.1:p.Tyr292His
NM_000283.4:c.655T>C MANE Select	NP_000274.3:p.Tyr219His
NM_001145291.2:c.655T>C	NP_001138763.2:p.Tyr219His