{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2390781648",
  "communityStandardTitle": [
    "NM_001256317.3(TMPRSS3):c.316C= (p.Arg106=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139805921",
        "rs": 139805921
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 42388935,
          "referenceAllele": "G",
          "start": 42388934
        }
      ],
      "hgvs": [
        "NC_000021.9:g.42388935G=",
        "CM000683.2:g.42388935G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 43809044,
          "referenceAllele": "G",
          "start": 43809043
        }
      ],
      "hgvs": [
        "NC_000021.8:g.43809044G=",
        "CM000683.1:g.43809044G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 42682113,
          "referenceAllele": "G",
          "start": 42682112
        }
      ],
      "hgvs": [
        "NC_000021.7:g.42682113G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12157,
          "referenceAllele": "C",
          "start": 12156
        }
      ],
      "hgvs": [
        "NG_011629.1:g.12157C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12157,
          "referenceAllele": "C",
          "start": 12156
        }
      ],
      "hgvs": [
        "NG_011629.2:g.12157C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673551"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.7:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.3:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000644384.2:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494414.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.316C="
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.316C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Arg106="
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Arg106="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000652415.1:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498756.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000291532.7:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291532.3:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398397.3:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381434.3:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398405.5:c.310C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381442.1:p.Arg104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.6:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.2:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000474596.5:n.184C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000482761.1:n.603C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381685",
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.1:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830021229",
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.2:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "C",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.2:c.-66C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:n.-66C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830075144",
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.1:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NR_046020.1:n.1272C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381685",
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.2:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830021229",
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.3:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830075144",
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.2:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381685",
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.3:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714742",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.316C="
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.316C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Arg106="
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Arg106="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830021229",
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.4:c.316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "C",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.3:c.-66C="
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:n.-66C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728830"
    }
  ],
  "type": "nucleotide"
}