{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA199346547",
  "communityStandardTitle": [
    "NM_005658.5(TRAF1):c.294+117C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.123676396G>T?assembly=hg19",
        "id": "chr9:g.123676396G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.120914118G>T?assembly=hg38",
        "id": "chr9:g.120914118G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2416804",
        "rs": 2416804
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-123676396-G-T?dataset=gnomad_r2_1",
        "id": "9-123676396-G-T",
        "variant": "9:123676396 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-120914118-G-T?dataset=gnomad_r3",
        "id": "9-120914118-G-T",
        "variant": "9:120914118 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-120914118-G-T?dataset=gnomad_r4",
        "id": "9-120914118-G-T",
        "variant": "9:120914118 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 120914118,
          "referenceAllele": "G",
          "start": 120914117
        }
      ],
      "hgvs": [
        "NC_000009.12:g.120914118G>T",
        "CM000671.2:g.120914118G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 123676396,
          "referenceAllele": "G",
          "start": 123676395
        }
      ],
      "hgvs": [
        "NC_000009.11:g.123676396G>T",
        "CM000671.1:g.123676396G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 122716217,
          "referenceAllele": "G",
          "start": 122716216
        }
      ],
      "hgvs": [
        "NC_000009.10:g.122716217G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20056,
          "referenceAllele": "C",
          "start": 20055
        }
      ],
      "hgvs": [
        "NG_023346.1:g.20056C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 767,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "ENST00000373887.8:c.294+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362994.3:n.294+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373887.8:c.294+117C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005658.5:c.294+117C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362994.3:n.294+117C>A"
          },
          "RefSeq": {
            "hgvs": "NP_005649.1:n.294+117C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2740,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 2740,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "ENST00000373887.7:c.294+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362994.3:n.294+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 719,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "ENST00000540010.1:c.294+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443183.1:n.294+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 131,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "ENST00000546084.5:c.-73+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438583.1:n.-73+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 719,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "NM_001190945.1:c.294+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177874.1:n.294+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 131,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "NM_001190947.1:c.-73+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177876.1:n.-73+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 866,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "NM_005658.4:c.294+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005649.1:n.294+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 767,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "NM_005658.5:c.294+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005649.1:n.294+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373887.8:c.294+117C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005658.5:c.294+117C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362994.3:n.294+117C>A"
          },
          "RefSeq": {
            "hgvs": "NP_005649.1:n.294+117C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 717,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "NM_001190945.2:c.294+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177874.1:n.294+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 117,
          "referenceAllele": "C",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012031",
      "geneNCBI_id": 7185,
      "geneSymbol": "TRAF1",
      "hgvs": [
        "NM_001190947.2:c.-73+117C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177876.1:n.-73+117C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713698"
    }
  ],
  "type": "nucleotide"
}