{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2147720803",
  "communityStandardTitle": [
    "NM_003239.5(TGFB3):c.787G= (p.Asp263=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796051886",
        "rs": 796051886
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 75963455,
          "referenceAllele": "C",
          "start": 75963454
        }
      ],
      "hgvs": [
        "NC_000014.9:g.75963455C=",
        "CM000676.2:g.75963455C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 76429798,
          "referenceAllele": "C",
          "start": 76429797
        }
      ],
      "hgvs": [
        "NC_000014.8:g.76429798C=",
        "CM000676.1:g.76429798C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 75499551,
          "referenceAllele": "C",
          "start": 75499550
        }
      ],
      "hgvs": [
        "NC_000014.7:g.75499551C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23295,
          "referenceAllele": "G",
          "start": 23294
        }
      ],
      "hgvs": [
        "NG_011715.1:g.23295G=",
        "LRG_399:g.23295G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001921"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000238682.8:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238682.3:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000238682.8:c.787G="
          },
          "RefSeq": {
            "hgvs": "NM_003239.5:c.787G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000238682.3:p.Asp263="
          },
          "RefSeq": {
            "hgvs": "NP_003230.1:p.Asp263="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000556674.2:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502685.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000238682.7:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238682.3:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000554980.5:n.1168G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89,
          "endIntronDirection": "-",
          "endIntronOffset": 25429,
          "referenceAllele": "C",
          "start": 89,
          "startIntronDirection": "-",
          "startIntronOffset": 25430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029669",
      "geneNCBI_id": 112752,
      "geneSymbol": "IFT43",
      "hgvs": [
        "ENST00000555677.5:n.90-25430C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000556285.1:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451110.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "G",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "ENST00000557493.1:n.253G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081380417",
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_003239.3:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003230.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1852,
          "referenceAllele": "G",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "XM_005268028.1:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268085.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329938.1:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316867.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329939.1:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316868.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081380417",
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_003239.4:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003230.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329938.2:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316867.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_001329939.2:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001316868.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081380417",
      "coordinates": [
        {
          "allele": "G",
          "end": 1889,
          "referenceAllele": "G",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011769",
      "geneNCBI_id": 7043,
      "geneSymbol": "TGFB3",
      "hgvs": [
        "NM_003239.5:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003230.1:p.Asp263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727366",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000238682.8:c.787G="
          },
          "RefSeq": {
            "hgvs": "NM_003239.5:c.787G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000238682.3:p.Asp263="
          },
          "RefSeq": {
            "hgvs": "NP_003230.1:p.Asp263="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}