Canonical Allele Identifier: CA5610391
Gene: PDE6C HGNC NCBI

Linked Data

ClinVar Variation Id: 961749
ClinVar RCV Id: RCV001235501
dbSNP Id: rs779387187
ExAC: 10:95418690 C / T
gnomAD v2: 10-95418690-C-T
gnomAD v3: 10-93658933-C-T
gnomAD v4: 10-93658933-C-T
MyVariant Identifiers: chr10:g.95418690C>T (hg19) chr10:g.93658933C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93658933C>T , CM000672.2:g.93658933C>T GRCh38
NC_000010.10:g.95418690C>T , CM000672.1:g.95418690C>T GRCh37
NC_000010.9:g.95408680C>T NCBI36
NG_016752.1:g.51346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.2069C>T MANE Select ENSP00000360502.3:p.Ala690Val
ENST00000371447.3:c.2069C>T ENSP00000360502.3:p.Ala690Val
NM_006204.3:c.2069C>T NP_006195.3:p.Ala690Val
NM_006204.4:c.2069C>T MANE Select NP_006195.3:p.Ala690Val
Search 100 bp 5'
Search 100 bp 3'