{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2014026242",
  "communityStandardTitle": [
    "NM_001065.4(TNFRSF1A):c.265T= (p.Phe89=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895245",
        "rs": 104895245
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6333794,
          "referenceAllele": "A",
          "start": 6333793
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6333794A=",
        "CM000674.2:g.6333794A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6442960,
          "referenceAllele": "A",
          "start": 6442959
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6442960A=",
        "CM000674.1:g.6442960A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6313221,
          "referenceAllele": "A",
          "start": 6313220
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6313221A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13302,
          "referenceAllele": "T",
          "start": 13301
        }
      ],
      "hgvs": [
        "NG_007506.1:g.13302T=",
        "LRG_193:g.13302T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000626"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000366159.9:n.299T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "T",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000437813.8:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513672.1:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "T",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000440083.7:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413224.3:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535958.2:c.*92T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513673.1:n.*92T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "T",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698339.1:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513670.1:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "T",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698340.1:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513671.1:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.7:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.265T="
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.265T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:p.Phe89="
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:p.Phe89="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 565,
          "referenceAllele": "T",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.6:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000366159.8:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380389.3:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "T",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000437813.7:n.226T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "T",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000440083.6:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413224.2:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "T",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000534885.5:c.111T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441803.1:p.Pro37="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535958.1:n.511T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "T",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000536194.1:c.238T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442919.1:p.Phe80="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "T",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000539372.5:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442059.1:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "endIntronDirection": "-",
          "endIntronOffset": 277,
          "referenceAllele": "T",
          "start": 406,
          "startIntronDirection": "-",
          "startIntronOffset": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000540022.5:c.194-278T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438343.1:n.194-278T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "endIntronDirection": "+",
          "endIntronOffset": 51,
          "referenceAllele": "T",
          "start": 404,
          "startIntronDirection": "+",
          "startIntronOffset": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543048.5:c.214+51T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439981.1:n.214+51T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "T",
          "start": 383,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543995.5:c.193+297T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442405.1:n.193+297T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079285229",
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.3:c.265T=",
        "LRG_193t1:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.1:c.-60T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:n.-60T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.1:c.-313T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:n.-313T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.1:n.568T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079285229",
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.4:c.265T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:p.Phe89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.265T="
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.265T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:p.Phe89="
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:p.Phe89="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "T",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.2:c.-60T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:n.-60T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.2:c.-313T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:n.-313T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.2:n.527T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704110"
    }
  ],
  "type": "nucleotide"
}