{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5015906",
  "communityStandardTitle": [
    "NM_000459.5(TEK):c.369C>T (p.Ser123=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2119275[alleleid]",
        "alleleId": 2119275,
        "preferredName": "NM_000459.5(TEK):c.369C>T (p.Ser123=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2069173",
        "RCV": [
          "RCV002958771"
        ],
        "variationId": 2069173
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-27168497-C-T",
        "id": "9-27168497-C-T",
        "variant": "9:27168497 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.27168497C>T?assembly=hg19",
        "id": "chr9:g.27168497C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.27168499C>T?assembly=hg38",
        "id": "chr9:g.27168499C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770932705",
        "rs": 770932705
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-27168497-C-T?dataset=gnomad_r2_1",
        "id": "9-27168497-C-T",
        "variant": "9:27168497 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-27168499-C-T?dataset=gnomad_r3",
        "id": "9-27168499-C-T",
        "variant": "9:27168499 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-27168499-C-T?dataset=gnomad_r4",
        "id": "9-27168499-C-T",
        "variant": "9:27168499 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 27168499,
          "referenceAllele": "C",
          "start": 27168498
        }
      ],
      "hgvs": [
        "NC_000009.12:g.27168499C>T",
        "CM000671.2:g.27168499C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 27168497,
          "referenceAllele": "C",
          "start": 27168496
        }
      ],
      "hgvs": [
        "NC_000009.11:g.27168497C>T",
        "CM000671.1:g.27168497C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 27158497,
          "referenceAllele": "C",
          "start": 27158496
        }
      ],
      "hgvs": [
        "NC_000009.10:g.27158497C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64351,
          "referenceAllele": "C",
          "start": 64350
        }
      ],
      "hgvs": [
        "NG_011828.1:g.64351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000380036.10:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369375.4:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380036.10:c.369C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000459.5:c.369C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369375.4:p.Ser123="
          },
          "RefSeq": {
            "hgvs": "NP_000450.3:p.Ser123="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000380036.8:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369375.4:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000406359.8:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383977.4:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 995,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000519080.1:c.53-996C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428337.1:n.53-996C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000519097.5:c.57C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430686.1:p.Ser19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000615002.4:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480251.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_000459.4:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000450.2:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001290077.1:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277006.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001290078.1:c.57C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277007.1:p.Ser19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251561.1:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251618.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251563.1:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251620.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251561.2:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251618.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251563.2:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251620.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825145864",
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_000459.5:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000450.3:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380036.10:c.369C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000459.5:c.369C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369375.4:p.Ser123="
          },
          "RefSeq": {
            "hgvs": "NP_000450.3:p.Ser123="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828611976",
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001375475.1:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362404.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828607704",
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001375476.1:c.369C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362405.1:p.Ser123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693578"
    }
  ],
  "type": "nucleotide"
}