{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2295872752",
  "communityStandardTitle": [
    "NM_031446.5(C18orf21):c.394A= (p.Thr132=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2276314",
        "rs": 2276314
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 35977503,
          "referenceAllele": "A",
          "start": 35977502
        }
      ],
      "hgvs": [
        "NC_000018.10:g.35977503A=",
        "CM000680.2:g.35977503A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 33557466,
          "referenceAllele": "A",
          "start": 33557465
        }
      ],
      "hgvs": [
        "NC_000018.9:g.33557466A=",
        "CM000680.1:g.33557466A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 31811464,
          "referenceAllele": "A",
          "start": 31811463
        }
      ],
      "hgvs": [
        "NC_000018.8:g.31811464A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "ENST00000592875.6:c.394A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465517.1:p.Thr132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761298",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592875.6:c.394A="
          },
          "RefSeq": {
            "hgvs": "NM_031446.5:c.394A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465517.1:p.Thr132="
          },
          "RefSeq": {
            "hgvs": "NP_113634.3:p.Thr132="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "ENST00000269194.10:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269194.6:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "A",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "ENST00000333234.5:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329492.5:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "A",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "ENST00000587873.5:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466400.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "ENST00000592875.5:c.394A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465517.1:p.Thr132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "ENST00000610527.4:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480486.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "endIntronDirection": "-",
          "endIntronOffset": 1331,
          "referenceAllele": "A",
          "start": 404,
          "startIntronDirection": "-",
          "startIntronOffset": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "ENST00000618334.1:c.301-1332A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483334.1:n.301-1332A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_001201474.1:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188403.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "referenceAllele": "A",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_001201475.1:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188404.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "endIntronDirection": "-",
          "endIntronOffset": 1331,
          "referenceAllele": "A",
          "start": 404,
          "startIntronDirection": "-",
          "startIntronOffset": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_001201476.1:c.301-1332A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188405.1:n.301-1332A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085441182",
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_031446.4:c.394A="
      ],
      "proteinEffect": {
        "hgvs": "NP_113634.3:p.Thr132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "XM_005258364.3:c.412A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258421.1:p.Thr138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "A",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "XM_005258364.5:c.412A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258421.1:p.Thr138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085441182",
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_031446.5:c.394A="
      ],
      "proteinEffect": {
        "hgvs": "NP_113634.3:p.Thr132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000592875.6:c.394A="
          },
          "RefSeq": {
            "hgvs": "NM_031446.5:c.394A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465517.1:p.Thr132="
          },
          "RefSeq": {
            "hgvs": "NP_113634.3:p.Thr132="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "A",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_001201474.2:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188403.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "referenceAllele": "A",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_001201475.2:c.130A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188404.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 1331,
          "referenceAllele": "A",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028802",
      "geneNCBI_id": 83608,
      "geneSymbol": "C18orf21",
      "hgvs": [
        "NM_001201476.2:c.301-1332A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188405.1:n.301-1332A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714065"
    }
  ],
  "type": "nucleotide"
}