{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5296939",
  "communityStandardTitle": [
    "NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577101[alleleid]",
        "alleleId": 577101,
        "preferredName": "NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586551",
        "RCV": [
          "RCV000713222",
          "RCV001644780",
          "RCV002532951"
        ],
        "variationId": 586551
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135173657-T-G",
        "id": "9-135173657-T-G",
        "variant": "9:135173657 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135173657T>G?assembly=hg19",
        "id": "chr9:g.135173657T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132298270T>G?assembly=hg38",
        "id": "chr9:g.132298270T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375747001",
        "rs": 375747001
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135173657-T-G?dataset=gnomad_r2_1",
        "id": "9-135173657-T-G",
        "variant": "9:135173657 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132298270-T-G?dataset=gnomad_r3",
        "id": "9-132298270-T-G",
        "variant": "9:132298270 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132298270-T-G?dataset=gnomad_r4",
        "id": "9-132298270-T-G",
        "variant": "9:132298270 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132298270,
          "referenceAllele": "T",
          "start": 132298269
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132298270T>G",
        "CM000671.2:g.132298270T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135173657,
          "referenceAllele": "T",
          "start": 135173656
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135173657T>G",
        "CM000671.1:g.135173657T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134163478,
          "referenceAllele": "T",
          "start": 134163477
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134163478T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61716,
          "referenceAllele": "A",
          "start": 61715
        }
      ],
      "hgvs": [
        "NG_007946.1:g.61716A>C",
        "LRG_268:g.61716A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.6:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Gln1864Pro",
        "hgvsWellDefined": "ENSP00000224140.5:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.5591A>C"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.5591A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Gln1864Pro"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Gln1864Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5774,
          "referenceAllele": "A",
          "start": 5773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.5:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Gln1864Pro",
        "hgvsWellDefined": "ENSP00000224140.5:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "referenceAllele": "A",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000436441.5:c.317A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409143.1:p.Gln106Pro",
        "hgvsWellDefined": "ENSP00000409143.1:p.Gln106Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848330",
      "coordinates": [
        {
          "allele": "C",
          "end": 5774,
          "referenceAllele": "A",
          "start": 5773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.5:c.5591A>C",
        "LRG_268t1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Gln1864Pro",
        "hgvsWellDefined": "NP_055861.3:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272171.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272228.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_005272228.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5873,
          "referenceAllele": "A",
          "start": 5872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_005272229.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5911,
          "referenceAllele": "A",
          "start": 5910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_005272230.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5915,
          "referenceAllele": "A",
          "start": 5914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516706.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5729,
          "referenceAllele": "A",
          "start": 5728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516707.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516708.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518407.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516709.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516709.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516710.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5507,
          "referenceAllele": "A",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.1:n.5507A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827616935",
      "coordinates": [
        {
          "allele": "C",
          "end": 5911,
          "referenceAllele": "A",
          "start": 5910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Gln1864Pro",
        "hgvsWellDefined": "NP_001338456.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827618263",
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.1:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Gln1864Pro",
        "hgvsWellDefined": "NP_001338457.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848330",
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.6:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Gln1864Pro",
        "hgvsWellDefined": "NP_055861.3:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5873,
          "referenceAllele": "A",
          "start": 5872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.3:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_005272229.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5911,
          "referenceAllele": "A",
          "start": 5910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.3:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_005272230.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5915,
          "referenceAllele": "A",
          "start": 5914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.3:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516706.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5933,
          "referenceAllele": "A",
          "start": 5932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.3:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516707.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.2:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516708.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.3:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Gln1864Pro",
        "hgvsWellDefined": "XP_011516710.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_017014496.1:c.44A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869985.1:p.Gln15Pro",
        "hgvsWellDefined": "XP_016869985.1:p.Gln15Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5146,
          "referenceAllele": "A",
          "start": 5145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_001746251.1:n.5146A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5507,
          "referenceAllele": "A",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.2:n.5507A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848330",
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.7:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Gln1864Pro",
        "hgvsWellDefined": "NP_055861.3:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.5591A>C"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.5591A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Gln1864Pro"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Gln1864Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827618263",
      "coordinates": [
        {
          "allele": "C",
          "end": 5775,
          "referenceAllele": "A",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.2:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Gln1864Pro",
        "hgvsWellDefined": "NP_001338457.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827616935",
      "coordinates": [
        {
          "allele": "C",
          "end": 5911,
          "referenceAllele": "A",
          "start": 5910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.2:c.5591A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Gln1864Pro",
        "hgvsWellDefined": "NP_001338456.1:p.Gln1864Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719848"
    }
  ],
  "type": "nucleotide"
}