{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12316155",
  "communityStandardTitle": [
    "NM_001128164.2(ATXN1):c.-160-14355T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.16343056A>G?assembly=hg19",
        "id": "chr6:g.16343056A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.16342825A>G?assembly=hg38",
        "id": "chr6:g.16342825A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9383153",
        "rs": 9383153
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-16343056-A-G?dataset=gnomad_r2_1",
        "id": "6-16343056-A-G",
        "variant": "6:16343056 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-16342825-A-G?dataset=gnomad_r3",
        "id": "6-16342825-A-G",
        "variant": "6:16342825 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-16342825-A-G?dataset=gnomad_r4",
        "id": "6-16342825-A-G",
        "variant": "6:16342825 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 16342825,
          "referenceAllele": "A",
          "start": 16342824
        }
      ],
      "hgvs": [
        "NC_000006.12:g.16342825A>G",
        "CM000668.2:g.16342825A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 16343056,
          "referenceAllele": "A",
          "start": 16343055
        }
      ],
      "hgvs": [
        "NC_000006.11:g.16343056A>G",
        "CM000668.1:g.16343056A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 16451035,
          "referenceAllele": "A",
          "start": 16451034
        }
      ],
      "hgvs": [
        "NC_000006.10:g.16451035A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423666,
          "referenceAllele": "T",
          "start": 423665
        }
      ],
      "hgvs": [
        "NG_011571.1:g.423666T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 732,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "ENST00000436367.6:c.-160-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416360.1:n.-160-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755611",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000436367.6:c.-160-14355T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001128164.2:c.-160-14355T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416360.1:n.-160-14355T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001121636.1:n.-160-14355T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 777,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "ENST00000244769.8:c.-160-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244769.3:n.-160-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "ENST00000436367.5:c.-160-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416360.1:n.-160-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_000332.3:c.-160-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000323.2:n.-160-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001128164.1:c.-160-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121636.1:n.-160-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001357857.1:c.-189-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344786.1:n.-189-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 781,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001357857.2:c.-189-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344786.1:n.-189-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 732,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_001128164.2:c.-160-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121636.1:n.-160-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000436367.6:c.-160-14355T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001128164.2:c.-160-14355T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416360.1:n.-160-14355T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001121636.1:n.-160-14355T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "endIntronDirection": "-",
          "endIntronOffset": 14354,
          "referenceAllele": "T",
          "start": 781,
          "startIntronDirection": "-",
          "startIntronOffset": 14355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010548",
      "geneNCBI_id": 6310,
      "geneSymbol": "ATXN1",
      "hgvs": [
        "NM_000332.4:c.-160-14355T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000323.2:n.-160-14355T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781558"
    }
  ],
  "type": "nucleotide"
}