{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA733685451",
  "communityStandardTitle": [
    "NM_130398.4(EXO1):c.-419G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4511241[alleleid]",
        "alleleId": 4511241,
        "preferredName": "NM_130398.4(EXO1):c.-419G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4397041",
        "RCV": [
          "RCV006083843"
        ],
        "variationId": 4397041
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.242012033G>C?assembly=hg19",
        "id": "chr1:g.242012033G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.241848731G>C?assembly=hg38",
        "id": "chr1:g.241848731G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1635517",
        "rs": 1635517
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 241848731,
          "referenceAllele": "G",
          "start": 241848730
        }
      ],
      "hgvs": [
        "NC_000001.11:g.241848731G>C",
        "CM000663.2:g.241848731G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 242012033,
          "referenceAllele": "G",
          "start": 242012032
        }
      ],
      "hgvs": [
        "NC_000001.10:g.242012033G>C",
        "CM000663.1:g.242012033G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 240078656,
          "referenceAllele": "G",
          "start": 240078655
        }
      ],
      "hgvs": [
        "NC_000001.9:g.240078656G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5541,
          "referenceAllele": "G",
          "start": 5540
        }
      ],
      "hgvs": [
        "NG_029100.1:g.5541G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5541,
          "referenceAllele": "G",
          "start": 5540
        }
      ],
      "hgvs": [
        "NG_029100.2:g.5541G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673770"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "referenceAllele": "G",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000366548.8:c.-419G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355506.3:n.-419G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366548.8:c.-419G>C"
          },
          "RefSeq": {
            "hgvs": "NM_130398.4:c.-419G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355506.3:n.-419G>C"
          },
          "RefSeq": {
            "hgvs": "NP_569082.2:n.-419G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1,
          "referenceAllele": "G",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000348581.9:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311873.5:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000366548.7:c.-419G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355506.3:n.-419G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000423131.5:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415531.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000519225.5:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429720.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23,
          "referenceAllele": "G",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "ENST00000523590.5:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430082.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1,
          "referenceAllele": "G",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_003686.4:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003677.4:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1,
          "referenceAllele": "G",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_006027.4:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006018.4:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_130398.3:c.-419G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_569082.2:n.-419G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_005273350.2:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273407.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_006711840.1:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711903.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544321.1:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542623.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544322.1:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542624.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544323.1:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542625.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544324.1:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542626.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544326.1:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542628.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544327.1:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542629.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XR_949162.1:n.164G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_001319224.1:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306153.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_006711840.2:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711903.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544321.2:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542623.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544323.2:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542625.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_011544324.2:c.-422G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542626.1:n.-422G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "XM_017002793.2:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858282.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "referenceAllele": "G",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_130398.4:c.-419G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_569082.2:n.-419G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366548.8:c.-419G>C"
          },
          "RefSeq": {
            "hgvs": "NM_130398.4:c.-419G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355506.3:n.-419G>C"
          },
          "RefSeq": {
            "hgvs": "NP_569082.2:n.-419G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "referenceAllele": "G",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003511",
      "geneNCBI_id": 9156,
      "geneSymbol": "EXO1",
      "hgvs": [
        "NM_001319224.2:c.-314G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306153.1:n.-314G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717693"
    }
  ],
  "type": "nucleotide"
}