{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5296454",
  "communityStandardTitle": [
    "NM_015046.7(SETX):c.7287+9C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=311320[alleleid]",
        "alleleId": 311320,
        "preferredName": "NM_015046.7(SETX):c.7287+9C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365345",
        "RCV": [
          "RCV000272756",
          "RCV000327969",
          "RCV002523742"
        ],
        "variationId": 365345
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135144993-G-T",
        "id": "9-135144993-G-T",
        "variant": "9:135144993 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135144993G>T?assembly=hg19",
        "id": "chr9:g.135144993G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132269606G>T?assembly=hg38",
        "id": "chr9:g.132269606G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769170686",
        "rs": 769170686
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135144993-G-T?dataset=gnomad_r2_1",
        "id": "9-135144993-G-T",
        "variant": "9:135144993 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132269606-G-T?dataset=gnomad_r3",
        "id": "9-132269606-G-T",
        "variant": "9:132269606 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132269606-G-T?dataset=gnomad_r4",
        "id": "9-132269606-G-T",
        "variant": "9:132269606 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 132269606,
          "referenceAllele": "G",
          "start": 132269605
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132269606G>T",
        "CM000671.2:g.132269606G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 135144993,
          "referenceAllele": "G",
          "start": 135144992
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135144993G>T",
        "CM000671.1:g.135144993G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134134814,
          "referenceAllele": "G",
          "start": 134134813
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134134814G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90380,
          "referenceAllele": "C",
          "start": 90379
        }
      ],
      "hgvs": [
        "NG_007946.1:g.90380C>A",
        "LRG_268:g.90380C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7471,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7471,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.6:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.7287+9C>A"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.7287+9C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:n.7287+9C>A"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:n.7287+9C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7470,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7470,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.5:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 2013,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000436441.5:c.2013+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409143.1:n.2013+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000477049.1:n.314+9C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7470,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7470,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.5:c.7287+9C>A",
        "LRG_268t1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7471,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7471,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272171.1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272228.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7569,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7569,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7607,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7607,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7611,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7611,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7425,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7425,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7203,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7203,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.1:n.7203+9C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7607,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7607,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7471,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7471,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.1:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7471,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7471,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.6:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7569,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7569,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.3:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7607,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7607,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.3:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7611,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7611,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.3:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7629,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7629,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.3:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2138,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 2138,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_017014496.1:c.1740+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869985.1:n.1740+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6842,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 6842,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_001746251.1:n.6842+9C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7203,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7203,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.2:n.7203+9C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7471,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7471,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.7:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.7287+9C>A"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.7287+9C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:n.7287+9C>A"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:n.7287+9C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7471,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7471,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.2:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7607,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 7607,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.2:c.7287+9C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:n.7287+9C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719848"
    }
  ],
  "type": "nucleotide"
}