Canonical Allele Identifier: CA5610291

Gene: PDE6C

Linked Data

• ClinVar Variation Id: 522317
• ClinVar RCV Id: RCV000625372 ; RCV000968895 ; RCV001103272
• dbSNP Id: rs45522236
• ExAC: 10:95400694 G / T
• gnomAD v2: 10-95400694-G-T
• gnomAD v3: 10-93640937-G-T
• gnomAD v4: 10-93640937-G-T
• MyVariant Identifiers: chr10:g.95400694G>T (hg19) ; chr10:g.93640937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93640937G>T , CM000672.2:g.93640937G>T	GRCh38
NC_000010.10:g.95400694G>T , CM000672.1:g.95400694G>T	GRCh37
NC_000010.9:g.95390684G>T	NCBI36
NG_016752.1:g.33350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371447.4:c.1755G>T MANE Select	ENSP00000360502.3:p.Lys585Asn
ENST00000371447.3:c.1755G>T	ENSP00000360502.3:p.Lys585Asn
NM_006204.3:c.1755G>T	NP_006195.3:p.Lys585Asn
NM_006204.4:c.1755G>T MANE Select	NP_006195.3:p.Lys585Asn