{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA603483598",
  "communityStandardTitle": [
    "NM_001065.4(TNFRSF1A):c.626-6C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1237391[alleleid]",
        "alleleId": 1237391,
        "preferredName": "NM_001065.4(TNFRSF1A):c.626-6C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1246148",
        "RCV": [
          "RCV001654240",
          "RCV002264380"
        ],
        "variationId": 1246148
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6439883G>A?assembly=hg19",
        "id": "chr12:g.6439883G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6330717G>A?assembly=hg38",
        "id": "chr12:g.6330717G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1275607339",
        "rs": 1275607339
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6439883-G-A?dataset=gnomad_r2_1",
        "id": "12-6439883-G-A",
        "variant": "12:6439883 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6330717-G-A?dataset=gnomad_r4",
        "id": "12-6330717-G-A",
        "variant": "12:6330717 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6330717,
          "referenceAllele": "G",
          "start": 6330716
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6330717G>A",
        "CM000674.2:g.6330717G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6439883,
          "referenceAllele": "G",
          "start": 6439882
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6439883G>A",
        "CM000674.1:g.6439883G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6310144,
          "referenceAllele": "G",
          "start": 6310143
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6310144G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16379,
          "referenceAllele": "C",
          "start": 16378
        }
      ],
      "hgvs": [
        "NG_007506.1:g.16379C>T",
        "LRG_193:g.16379C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000626"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1726,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1726,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000366159.9:n.1727-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 956,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 956,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000437813.8:c.*87-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513672.1:n.*87-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1115,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000440083.7:c.845-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413224.3:n.845-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 807,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535038.2:n.808-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 871,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535958.2:c.*453-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513673.1:n.*453-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698337.1:n.610C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698338.1:n.1034C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 990,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698339.1:c.*121-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513670.1:n.*121-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698340.1:c.552-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513671.1:n.552-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.7:c.626-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:n.626-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.626-6C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.626-6C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:n.626-6C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:n.626-6C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 925,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.6:c.626-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:n.626-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000534885.5:c.*103-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441803.1:n.*103-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535038.1:n.431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000536717.5:n.530-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 229,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000537842.5:n.230-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 793,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 793,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000539372.5:c.626-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442059.1:n.626-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 709,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000540022.5:c.497-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438343.1:n.497-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543359.5:n.38-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 621,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543995.5:c.*213-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442405.1:n.*213-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 928,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.3:c.626-6C>T",
        "LRG_193t1:c.626-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:n.626-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 774,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.1:c.302-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:n.302-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1046,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.1:c.167-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:n.167-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 854,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.1:n.855-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.4:c.626-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:n.626-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.626-6C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.626-6C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:n.626-6C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:n.626-6C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 733,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.2:c.302-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:n.302-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1005,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.2:c.167-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:n.167-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.2:n.814-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704110"
    }
  ],
  "type": "nucleotide"
}