Canonical Allele Identifier: CA5610407

Gene: PDE6C

Linked Data

• ClinVar Variation Id: 301638
• ClinVar RCV Id: RCV000261361 ; RCV000318942
• dbSNP Id: rs201956926
• ExAC: 10:95418780 T / C
• gnomAD v2: 10-95418780-T-C
• gnomAD v3: 10-93659023-T-C
• gnomAD v4: 10-93659023-T-C
• MyVariant Identifiers: chr10:g.95418780T>C (hg19) ; chr10:g.93659023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93659023T>C , CM000672.2:g.93659023T>C	GRCh38
NC_000010.10:g.95418780T>C , CM000672.1:g.95418780T>C	GRCh37
NC_000010.9:g.95408770T>C	NCBI36
NG_016752.1:g.51436T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371447.4:c.2144+15T>C MANE Select	ENSP00000360502.3:n.2144+15T>C
ENST00000371447.3:c.2144+15T>C	ENSP00000360502.3:n.2144+15T>C
NM_006204.3:c.2144+15T>C	NP_006195.3:n.2144+15T>C
NM_006204.4:c.2144+15T>C MANE Select	NP_006195.3:n.2144+15T>C