{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA291335",
  "communityStandardTitle": [
    "NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=141383[alleleid]",
        "alleleId": 141383,
        "preferredName": "NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137680",
        "RCV": [
          "RCV000125554",
          "RCV000900584",
          "RCV003894981"
        ],
        "variationId": 137680
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-6439858-G-A",
        "id": "12-6439858-G-A",
        "variant": "12:6439858 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6439858G>A?assembly=hg19",
        "id": "chr12:g.6439858G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6330692G>A?assembly=hg38",
        "id": "chr12:g.6330692G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147075345",
        "rs": 147075345
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6439858-G-A?dataset=gnomad_r2_1",
        "id": "12-6439858-G-A",
        "variant": "12:6439858 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6330692-G-A?dataset=gnomad_r3",
        "id": "12-6330692-G-A",
        "variant": "12:6330692 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6330692-G-A?dataset=gnomad_r4",
        "id": "12-6330692-G-A",
        "variant": "12:6330692 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6330692,
          "referenceAllele": "G",
          "start": 6330691
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6330692G>A",
        "CM000674.2:g.6330692G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6439858,
          "referenceAllele": "G",
          "start": 6439857
        }
      ],
      "hgvs": [
        "NC_000012.11:g.6439858G>A",
        "CM000674.1:g.6439858G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6310119,
          "referenceAllele": "G",
          "start": 6310118
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6310119G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16404,
          "referenceAllele": "C",
          "start": 16403
        }
      ],
      "hgvs": [
        "NG_007506.1:g.16404C>T",
        "LRG_193:g.16404C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000626"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000366159.9:n.1746C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000437813.8:c.*106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513672.1:n.*106C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000440083.7:c.864C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413224.3:p.Pro288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535038.2:n.827C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535958.2:c.*472C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513673.1:n.*472C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698337.1:n.635C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698338.1:n.1059C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698339.1:c.*140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513670.1:n.*140C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000698340.1:c.571C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513671.1:p.Pro191Ser",
        "hgvsWellDefined": "ENSP00000513671.1:p.Pro191Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.7:c.645C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:p.Pro215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.645C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.645C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:p.Pro215="
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:p.Pro215="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000162749.6:c.645C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000162749.2:p.Pro215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000534885.5:c.*122C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441803.1:n.*122C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000535038.1:n.456C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000536717.5:n.549C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000537842.5:n.249C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000539372.5:c.645C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442059.1:p.Pro215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000540022.5:c.516C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438343.1:p.Pro172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543359.5:n.57C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "ENST00000543995.5:c.*232C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442405.1:n.*232C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825396606",
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.3:c.645C>T",
        "LRG_193t1:c.645C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:p.Pro215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827363581",
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.1:c.321C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:p.Pro107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827363771",
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.1:c.186C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:p.Pro62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.1:n.874C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825396606",
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001065.4:c.645C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001056.1:p.Pro215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676122",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000162749.7:c.645C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001065.4:c.645C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000162749.2:p.Pro215="
          },
          "RefSeq": {
            "hgvs": "NP_001056.1:p.Pro215="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827363581",
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346091.2:c.321C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333020.1:p.Pro107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687247"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827363771",
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NM_001346092.2:c.186C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333021.1:p.Pro62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "C",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011916",
      "geneNCBI_id": 7132,
      "geneSymbol": "TNFRSF1A",
      "hgvs": [
        "NR_144351.2:n.833C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704110"
    }
  ],
  "type": "nucleotide"
}