{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619401122",
  "communityStandardTitle": [
    "NM_001365276.2(TNXB):c.12220C= (p.Arg4074=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777682",
        "rs": 587777682
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32042353,
          "referenceAllele": "G",
          "start": 32042352
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32042353G=",
        "CM000668.2:g.32042353G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32010130,
          "referenceAllele": "G",
          "start": 32010129
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32010130G=",
        "CM000668.1:g.32010130G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32118109,
          "referenceAllele": "G",
          "start": 32118108
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32118109G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9046,
          "referenceAllele": "G",
          "start": 9045
        }
      ],
      "hgvs": [
        "NG_007941.2:g.9046G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72022,
          "referenceAllele": "C",
          "start": 72021
        }
      ],
      "hgvs": [
        "NG_008337.2:g.72022C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "hgvs": [
        "NG_007941.3:g.9049G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000709"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12386,
          "referenceAllele": "C",
          "start": 12385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000644971.2:c.12220C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496448.1:p.Arg4074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644971.2:c.12220C="
          },
          "RefSeq": {
            "hgvs": "NM_001365276.2:c.12220C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496448.1:p.Arg4074="
          },
          "RefSeq": {
            "hgvs": "NP_001352205.1:p.Arg4074="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13121,
          "referenceAllele": "C",
          "start": 13120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000647633.1:c.12961C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497649.1:p.Arg4321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12422,
          "referenceAllele": "C",
          "start": 12421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000375244.7:c.12220C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364393.3:p.Arg4074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000451343.4:c.1507C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407685.1:p.Arg503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000490077.5:n.2047C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000498094.1:n.705C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5374,
          "referenceAllele": "C",
          "start": 5373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "ENST00000611016.2:c.5374C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483409.1:p.Arg1792="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072290521",
      "coordinates": [
        {
          "allele": "C",
          "end": 12416,
          "referenceAllele": "C",
          "start": 12415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.6:c.12214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Arg4072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_032470.3:c.1507C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115859.2:p.Arg503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12386,
          "referenceAllele": "C",
          "start": 12385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_001365276.1:c.12220C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352205.1:p.Arg4074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072290521",
      "coordinates": [
        {
          "allele": "C",
          "end": 12380,
          "referenceAllele": "C",
          "start": 12379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.7:c.12214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Arg4072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12386,
          "referenceAllele": "C",
          "start": 12385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_001365276.2:c.12220C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352205.1:p.Arg4074="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644971.2:c.12220C="
          },
          "RefSeq": {
            "hgvs": "NM_001365276.2:c.12220C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496448.1:p.Arg4074="
          },
          "RefSeq": {
            "hgvs": "NP_001352205.1:p.Arg4074="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072290521",
      "coordinates": [
        {
          "allele": "C",
          "end": 12380,
          "referenceAllele": "C",
          "start": 12379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_019105.8:c.12214C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061978.6:p.Arg4072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NM_032470.4:c.1507C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115859.2:p.Arg503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728839"
    }
  ],
  "type": "nucleotide"
}