{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5297098",
  "communityStandardTitle": [
    "NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458968[alleleid]",
        "alleleId": 458968,
        "preferredName": "NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/468516",
        "RCV": [
          "RCV000558440",
          "RCV000859806",
          "RCV001644653",
          "RCV002341378",
          "RCV001848953",
          "RCV004538011"
        ],
        "variationId": 468516
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135202003-G-C",
        "id": "9-135202003-G-C",
        "variant": "9:135202003 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135202003G>C?assembly=hg19",
        "id": "chr9:g.135202003G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132326616G>C?assembly=hg38",
        "id": "chr9:g.132326616G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146873848",
        "rs": 146873848
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135202003-G-C?dataset=gnomad_r2_1",
        "id": "9-135202003-G-C",
        "variant": "9:135202003 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132326616-G-C?dataset=gnomad_r3",
        "id": "9-132326616-G-C",
        "variant": "9:132326616 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132326616-G-C?dataset=gnomad_r4",
        "id": "9-132326616-G-C",
        "variant": "9:132326616 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132326616,
          "referenceAllele": "G",
          "start": 132326615
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132326616G>C",
        "CM000671.2:g.132326616G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 135202003,
          "referenceAllele": "G",
          "start": 135202002
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135202003G>C",
        "CM000671.1:g.135202003G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 134191824,
          "referenceAllele": "G",
          "start": 134191823
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134191824G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33370,
          "referenceAllele": "C",
          "start": 33369
        }
      ],
      "hgvs": [
        "NG_007946.1:g.33370C>G",
        "LRG_268:g.33370C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.6:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Pro1661Arg",
        "hgvsWellDefined": "ENSP00000224140.5:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.4982C>G"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.4982C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Pro1661Arg"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Pro1661Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5165,
          "referenceAllele": "C",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.5:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Pro1661Arg",
        "hgvsWellDefined": "ENSP00000224140.5:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662266",
      "coordinates": [
        {
          "allele": "G",
          "end": 5165,
          "referenceAllele": "C",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.5:c.4982C>G",
        "LRG_268t1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Pro1661Arg",
        "hgvsWellDefined": "NP_055861.3:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272171.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272228.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_005272228.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5264,
          "referenceAllele": "C",
          "start": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_005272229.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_005272230.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5306,
          "referenceAllele": "C",
          "start": 5305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516706.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5120,
          "referenceAllele": "C",
          "start": 5119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516707.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516708.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518407.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516709.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516709.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516710.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.1:n.5166C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827616832",
      "coordinates": [
        {
          "allele": "G",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Pro1661Arg",
        "hgvsWellDefined": "NP_001338456.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827618160",
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.1:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Pro1661Arg",
        "hgvsWellDefined": "NP_001338457.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662266",
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.6:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Pro1661Arg",
        "hgvsWellDefined": "NP_055861.3:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5264,
          "referenceAllele": "C",
          "start": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.3:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_005272229.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.3:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_005272230.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5306,
          "referenceAllele": "C",
          "start": 5305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.3:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516706.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5324,
          "referenceAllele": "C",
          "start": 5323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.3:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516707.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.2:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516708.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518408.3:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516710.1:p.Pro1661Arg",
        "hgvsWellDefined": "XP_011516710.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 337,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_017014496.1:c.-274+337C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869985.1:n.-274+337C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4829,
          "endIntronDirection": "+",
          "endIntronOffset": 337,
          "referenceAllele": "C",
          "start": 4829,
          "startIntronDirection": "+",
          "startIntronOffset": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_001746251.1:n.4829+337C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.2:n.5166C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662266",
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.7:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Pro1661Arg",
        "hgvsWellDefined": "NP_055861.3:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.4982C>G"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.4982C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Pro1661Arg"
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Pro1661Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827618160",
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "C",
          "start": 5165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.2:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Pro1661Arg",
        "hgvsWellDefined": "NP_001338457.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827616832",
      "coordinates": [
        {
          "allele": "G",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.2:c.4982C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Pro1661Arg",
        "hgvsWellDefined": "NP_001338456.1:p.Pro1661Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719848"
    }
  ],
  "type": "nucleotide"
}