{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA280724",
  "communityStandardTitle": [
    "NM_001065.4(TNFRSF1A):c.176G>T (p.Cys59Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103545[alleleid]",
        "alleleId": 103545,
        "preferredName": "NM_001065.4(TNFRSF1A):c.176G>T (p.Cys59Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97653",
        "RCV": [
          "RCV000083906"
        ],
        "variationId": 97653
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6443274C>A?assembly=hg19",
        "id": "chr12:g.6443274C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6334108C>A?assembly=hg38",
        "id": "chr12:g.6334108C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895223",
        "rs": 104895223
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6334108,
          "referenceAllele": "C",
          "start": 6334107
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6334108C>A",
        "CM000674.2:g.6334108C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6443274,
          "referenceAllele": "C",
          "start": 6443273
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6443274C>A",
        "CM000674.1:g.6443274C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6313535,
          "referenceAllele": "C",
          "start": 6313534
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6313535C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12988,
          "referenceAllele": "G",
          "start": 12987
        }
      ],
      "hgvs": [
        "NG_007506.1:g.12988G>T",
        "LRG_193:g.12988G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000626"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000366159.9:n.210G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000437813.8:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513672.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000513672.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000440083.7:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413224.3:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000413224.3:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535958.2:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513673.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000513673.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698339.1:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513670.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000513670.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698340.1:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513671.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000513671.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.7:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000162749.2:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.176G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.176G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:p.Cys59Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:p.Cys59Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.6:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000162749.2:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000366159.8:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380389.3:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000380389.3:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000437813.7:n.137G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000440083.6:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413224.2:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000413224.2:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000534885.5:c.40-243G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441803.1:n.40-243G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535958.1:n.397G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000536194.1:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442919.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000442919.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000538363.1:n.366G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000539372.5:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442059.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000442059.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000540022.5:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438343.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000438343.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543048.5:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439981.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000439981.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543995.5:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442405.1:p.Cys59Phe",
        "hgvsWellDefined": "ENSP00000442405.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280726",
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.3:c.176G>T",
        "LRG_193t1:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:p.Cys59Phe",
        "hgvsWellDefined": "NP_001056.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.1:c.-131-243G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:n.-131-243G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.1:c.-402G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:n.-402G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.1:n.479G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280726",
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.4:c.176G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:p.Cys59Phe",
        "hgvsWellDefined": "NP_001056.1:p.Cys59Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.176G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.176G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:p.Cys59Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:p.Cys59Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "endIntronDirection": "-",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "-",
          "startIntronOffset": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.2:c.-131-243G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:n.-131-243G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.2:c.-402G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:n.-402G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.2:n.438G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704110"
    }
  ],
  "type": "nucleotide"
}