{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2004751394",
  "communityStandardTitle": [
    "NM_005422.4(TECTA):c.5597C= (p.Thr1866=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140236996",
        "rs": 140236996
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 121168064,
          "referenceAllele": "C",
          "start": 121168063
        }
      ],
      "hgvs": [
        "NC_000011.10:g.121168064C=",
        "CM000673.2:g.121168064C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 121038773,
          "referenceAllele": "C",
          "start": 121038772
        }
      ],
      "hgvs": [
        "NC_000011.9:g.121038773C=",
        "CM000673.1:g.121038773C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 120543983,
          "referenceAllele": "C",
          "start": 120543982
        }
      ],
      "hgvs": [
        "NC_000011.8:g.120543983C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70399,
          "referenceAllele": "C",
          "start": 70398
        }
      ],
      "hgvs": [
        "NG_011633.1:g.70399C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001868"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5798,
          "referenceAllele": "C",
          "start": 5797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000392793.6:c.5597C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376543.1:p.Thr1866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392793.6:c.5597C="
          },
          "RefSeq": {
            "hgvs": "NM_005422.4:c.5597C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376543.1:p.Thr1866="
          },
          "RefSeq": {
            "hgvs": "NP_005413.2:p.Thr1866="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5647,
          "referenceAllele": "C",
          "start": 5646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000642222.1:c.5582C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493855.1:p.Thr1861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2889,
          "referenceAllele": "C",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000645008.1:c.2889C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000646278.1:n.1518C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000264037.2:c.5597C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264037.2:p.Thr1866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5868,
          "referenceAllele": "C",
          "start": 5867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "ENST00000392793.5:c.5597C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376543.1:p.Thr1866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077723742",
      "coordinates": [
        {
          "allele": "C",
          "end": 5597,
          "referenceAllele": "C",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "NM_005422.2:c.5597C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005413.2:p.Thr1866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6746,
          "referenceAllele": "C",
          "start": 6745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054857",
      "geneNCBI_id": 116804918,
      "geneSymbol": "TBCEL-TECTA",
      "hgvs": [
        "NM_001378761.1:c.6539C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365690.1:p.Thr2180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077723742",
      "coordinates": [
        {
          "allele": "C",
          "end": 5798,
          "referenceAllele": "C",
          "start": 5797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "NM_005422.4:c.5597C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005413.2:p.Thr1866="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392793.6:c.5597C="
          },
          "RefSeq": {
            "hgvs": "NM_005422.4:c.5597C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376543.1:p.Thr1866="
          },
          "RefSeq": {
            "hgvs": "NP_005413.2:p.Thr1866="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}