{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2064633661",
  "communityStandardTitle": [
    "NM_181486.4(TBX5):c.1078C= (p.Gln360=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794062",
        "rs": 1064794062
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 114356011,
          "referenceAllele": "G",
          "start": 114356010
        }
      ],
      "hgvs": [
        "NC_000012.12:g.114356011G=",
        "CM000674.2:g.114356011G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 114793816,
          "referenceAllele": "G",
          "start": 114793815
        }
      ],
      "hgvs": [
        "NC_000012.11:g.114793816G=",
        "CM000674.1:g.114793816G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 113278199,
          "referenceAllele": "G",
          "start": 113278198
        }
      ],
      "hgvs": [
        "NC_000012.10:g.113278199G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57432,
          "referenceAllele": "C",
          "start": 57431
        }
      ],
      "hgvs": [
        "NG_007373.1:g.57432C=",
        "LRG_670:g.57432C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000550"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.7:c.1078C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384152.3:p.Gln360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754125",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.1078C="
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.1078C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Gln360="
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Gln360="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000310346.8:c.1078C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309913.4:p.Gln360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000349716.9:c.928C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337723.5:p.Gln310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "ENST00000405440.6:c.1078C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384152.2:p.Gln360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_000192.3:c.1078C=",
        "LRG_670t1:c.1078C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000183.2:p.Gln360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "referenceAllele": "C",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.2:c.928C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Gln310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807275",
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.2:c.1078C="
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Gln360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3496,
          "referenceAllele": "C",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "XM_017019912.1:c.1126C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875401.1:p.Gln376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.3:c.928C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Gln310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807275",
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_181486.4:c.1078C="
      ],
      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Gln360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.1078C="
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.1078C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Gln360="
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Gln360="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.4:c.928C="
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Gln310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729060"
    }
  ],
  "type": "nucleotide"
}