{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA065105",
  "communityStandardTitle": [
    "NM_024426.6(WT1):c.609C>T (p.Asn203=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5020955"
      },
      {
        "active": false,
        "id": "COSM5020956"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=254144[alleleid]",
        "alleleId": 254144,
        "preferredName": "NM_024426.6(WT1):c.609C>T (p.Asn203=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261713",
        "RCV": [
          "RCV000247609",
          "RCV000348640",
          "RCV000393785",
          "RCV000403336",
          "RCV000576729",
          "RCV000586923",
          "RCV001517367",
          "RCV002244667",
          "RCV002244668",
          "RCV003588605",
          "RCV004547639"
        ],
        "variationId": 261713
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-32456298-G-A",
        "id": "11-32456298-G-A",
        "variant": "11:32456298 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.32456298G>A?assembly=hg19",
        "id": "chr11:g.32456298G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.32434752G>A?assembly=hg38",
        "id": "chr11:g.32434752G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2234583",
        "rs": 2234583
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-32456298-G-A?dataset=gnomad_r2_1",
        "id": "11-32456298-G-A",
        "variant": "11:32456298 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-32434752-G-A?dataset=gnomad_r3",
        "id": "11-32434752-G-A",
        "variant": "11:32434752 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-32434752-G-A?dataset=gnomad_r4",
        "id": "11-32434752-G-A",
        "variant": "11:32434752 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 32434752,
          "referenceAllele": "G",
          "start": 32434751
        }
      ],
      "hgvs": [
        "NC_000011.10:g.32434752G>A",
        "CM000673.2:g.32434752G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 32456298,
          "referenceAllele": "G",
          "start": 32456297
        }
      ],
      "hgvs": [
        "NC_000011.9:g.32456298G>A",
        "CM000673.1:g.32456298G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 32412874,
          "referenceAllele": "G",
          "start": 32412873
        }
      ],
      "hgvs": [
        "NC_000011.8:g.32412874G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5790,
          "referenceAllele": "C",
          "start": 5789
        }
      ],
      "hgvs": [
        "NG_009272.1:g.5790C>T",
        "LRG_525:g.5790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000332351.9:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331327.5:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000379077.9:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368368.5:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000448076.9:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413452.5:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000452863.10:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415516.5:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756399",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452863.10:c.609C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024426.6:c.609C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415516.5:p.Asn203="
          },
          "RefSeq": {
            "hgvs": "NP_077744.4:p.Asn203="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000639563.3:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492269.3:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000332351.7:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331327.3:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000379077.7:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368368.3:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000448076.7:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413452.3:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "ENST00000452863.7:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415516.3:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.4:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.3:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.3:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.2:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.4:c.594C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.3:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825161025",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.5:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.4:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829999557",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.4:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.3:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830001803",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.5:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.4:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NR_160306.1:n.788C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825161025",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_000378.6:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000369.4:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829999557",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024424.5:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077742.3:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830001803",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012796",
      "geneNCBI_id": 7490,
      "geneSymbol": "WT1",
      "hgvs": [
        "NM_024426.6:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077744.4:p.Asn203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000452863.10:c.609C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024426.6:c.609C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415516.5:p.Asn203="
          },
          "RefSeq": {
            "hgvs": "NP_077744.4:p.Asn203="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}