Canonical Allele Identifier: CA119903
Gene: PDE6C HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.93663028G>A
GRCh37 chr10:g.95422785G>A
Revel Score:
ENST00000371447 (MANE Select) 0.821
ClinVar RCV:
RCV000009314
ClinVar Variation:
8769
dbSNP:
267606936
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93663028G>A , CM000672.2:g.93663028G>A GRCh38
NC_000010.10:g.95422785G>A , CM000672.1:g.95422785G>A GRCh37
NC_000010.9:g.95412775G>A NCBI36
NG_016752.1:g.55441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371447.4:c.2368G>A MANE Select ENSP00000360502.3:p.Glu790Lys
ENST00000371447.3:c.2368G>A ENSP00000360502.3:p.Glu790Lys
ENST00000475427.2:n.162+385G>A
NM_006204.3:c.2368G>A NP_006195.3:p.Glu790Lys
NM_006204.4:c.2368G>A MANE Select NP_006195.3:p.Glu790Lys
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