{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5296618",
  "communityStandardTitle": [
    "NM_015046.7(SETX):c.6829T>C (p.Leu2277=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=793311[alleleid]",
        "alleleId": 793311,
        "preferredName": "NM_015046.7(SETX):c.6829T>C (p.Leu2277=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/805431",
        "RCV": [
          "RCV001167194",
          "RCV000992954",
          "RCV001167193",
          "RCV002550648"
        ],
        "variationId": 805431
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-135153470-A-G",
        "id": "9-135153470-A-G",
        "variant": "9:135153470 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135153470A>G?assembly=hg19",
        "id": "chr9:g.135153470A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132278083A>G?assembly=hg38",
        "id": "chr9:g.132278083A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/189444354",
        "rs": 189444354
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-135153470-A-G?dataset=gnomad_r2_1",
        "id": "9-135153470-A-G",
        "variant": "9:135153470 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132278083-A-G?dataset=gnomad_r3",
        "id": "9-132278083-A-G",
        "variant": "9:132278083 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-132278083-A-G?dataset=gnomad_r4",
        "id": "9-132278083-A-G",
        "variant": "9:132278083 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132278083,
          "referenceAllele": "A",
          "start": 132278082
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132278083A>G",
        "CM000671.2:g.132278083A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135153470,
          "referenceAllele": "A",
          "start": 135153469
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135153470A>G",
        "CM000671.1:g.135153470A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134143291,
          "referenceAllele": "A",
          "start": 134143290
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134143291A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81903,
          "referenceAllele": "T",
          "start": 81902
        }
      ],
      "hgvs": [
        "NG_007946.1:g.81903T>C",
        "LRG_268:g.81903T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.6:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740633",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.6829T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.6829T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Leu2277="
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Leu2277="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7012,
          "referenceAllele": "T",
          "start": 7011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000224140.5:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224140.5:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "T",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000436441.5:c.1555T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409143.1:p.Leu519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27,
          "referenceAllele": "T",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "ENST00000464133.1:n.27T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829795629",
      "coordinates": [
        {
          "allele": "C",
          "end": 7012,
          "referenceAllele": "T",
          "start": 7011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.5:c.6829T>C",
        "LRG_268t1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033695"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272171.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272228.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7111,
          "referenceAllele": "T",
          "start": 7110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7149,
          "referenceAllele": "T",
          "start": 7148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7153,
          "referenceAllele": "T",
          "start": 7152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6967,
          "referenceAllele": "T",
          "start": 6966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518407.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516709.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6745,
          "referenceAllele": "T",
          "start": 6744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.1:n.6745T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827617099",
      "coordinates": [
        {
          "allele": "C",
          "end": 7149,
          "referenceAllele": "T",
          "start": 7148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827618428",
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.1:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829795629",
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.6:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7111,
          "referenceAllele": "T",
          "start": 7110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272172.3:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272229.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7149,
          "referenceAllele": "T",
          "start": 7148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_005272173.3:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272230.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7153,
          "referenceAllele": "T",
          "start": 7152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518404.3:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516706.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7171,
          "referenceAllele": "T",
          "start": 7170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518405.3:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516707.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_011518406.2:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516708.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1680,
          "referenceAllele": "T",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XM_017014496.1:c.1282T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869985.1:p.Leu428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6384,
          "referenceAllele": "T",
          "start": 6383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_001746251.1:n.6384T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6745,
          "referenceAllele": "T",
          "start": 6744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "XR_929739.2:n.6745T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829795629",
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_015046.7:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055861.3:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224140.6:c.6829T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015046.7:c.6829T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224140.5:p.Leu2277="
          },
          "RefSeq": {
            "hgvs": "NP_055861.3:p.Leu2277="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827618428",
      "coordinates": [
        {
          "allele": "C",
          "end": 7013,
          "referenceAllele": "T",
          "start": 7012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351528.2:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338457.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827617099",
      "coordinates": [
        {
          "allele": "C",
          "end": 7149,
          "referenceAllele": "T",
          "start": 7148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000445",
      "geneNCBI_id": 23064,
      "geneSymbol": "SETX",
      "hgvs": [
        "NM_001351527.2:c.6829T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338456.1:p.Leu2277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719848"
    }
  ],
  "type": "nucleotide"
}