Canonical Allele Identifier: CA5610199
Gene: PDE6C HGNC NCBI

Linked Data

ClinVar Variation Id: 301632
ClinVar RCV Id: RCV000335597 RCV000373939 RCV001394955
dbSNP Id: rs201702907
ExAC: 10:95396829 T / C
gnomAD v2: 10-95396829-T-C
gnomAD v3: 10-93637072-T-C
gnomAD v4: 10-93637072-T-C
MyVariant Identifiers: chr10:g.95396829T>C (hg19) chr10:g.93637072T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93637072T>C , CM000672.2:g.93637072T>C GRCh38
NC_000010.10:g.95396829T>C , CM000672.1:g.95396829T>C GRCh37
NC_000010.9:g.95386819T>C NCBI36
NG_016752.1:g.29485T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371447.4:c.1482+9T>C MANE Select ENSP00000360502.3:n.1482+9T>C
ENST00000371447.3:c.1482+9T>C ENSP00000360502.3:n.1482+9T>C
NM_006204.3:c.1482+9T>C NP_006195.3:n.1482+9T>C
NM_006204.4:c.1482+9T>C MANE Select NP_006195.3:n.1482+9T>C
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