{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1612707388",
  "communityStandardTitle": [
    "NM_001128164.2(ATXN1):c.-160-69617C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/179943",
        "rs": 179943
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 16398087,
          "referenceAllele": "G",
          "start": 16398086
        }
      ],
      "hgvs": [
        "NC_000006.12:g.16398087G=",
        "CM000668.2:g.16398087G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 16398318,
          "referenceAllele": "G",
          "start": 16398317
        }
      ],
      "hgvs": [
        "NC_000006.11:g.16398318G=",
        "CM000668.1:g.16398318G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 16506297,
          "referenceAllele": "G",
          "start": 16506296
        }
      ],
      "hgvs": [
        "NC_000006.10:g.16506297G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368404,
          "referenceAllele": "C",
          "start": 368403
        }
      ],
      "hgvs": [
        "NG_011571.1:g.368404C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 732,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "ENST00000436367.6:c.-160-69617C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416360.1:n.-160-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755611",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000436367.6:c.-160-69617C="
          },
          "RefSeq": {
            "hgvs": "NM_001128164.2:c.-160-69617C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416360.1:n.-160-69617C="
          },
          "RefSeq": {
            "hgvs": "NP_001121636.1:n.-160-69617C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "ENST00000244769.8:c.-160-69617C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244769.3:n.-160-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "ENST00000436367.5:c.-160-69617C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416360.1:n.-160-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_000332.3:c.-160-69617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000323.2:n.-160-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001128164.1:c.-160-69617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121636.1:n.-160-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001357857.1:c.-189-69617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001344786.1:n.-189-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 781,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001357857.2:c.-189-69617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001344786.1:n.-189-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 732,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001128164.2:c.-160-69617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121636.1:n.-160-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000436367.6:c.-160-69617C="
          },
          "RefSeq": {
            "hgvs": "NM_001128164.2:c.-160-69617C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416360.1:n.-160-69617C="
          },
          "RefSeq": {
            "hgvs": "NP_001121636.1:n.-160-69617C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "endIntronDirection": "-",
          "endIntronOffset": 69616,
          "referenceAllele": "C",
          "start": 781,
          "startIntronDirection": "-",
          "startIntronOffset": 69617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_000332.4:c.-160-69617C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000323.2:n.-160-69617C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781558"
    }
  ],
  "type": "nucleotide"
}