{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261813",
  "communityStandardTitle": [
    "NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55279[alleleid]",
        "alleleId": 55279,
        "preferredName": "NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46114",
        "RCV": [
          "RCV000211860",
          "RCV000262015",
          "RCV000332878"
        ],
        "variationId": 46114
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-43808633-G-A",
        "id": "21-43808633-G-A",
        "variant": "21:43808633 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43808633G>A?assembly=hg19",
        "id": "chr21:g.43808633G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.42388524G>A?assembly=hg38",
        "id": "chr21:g.42388524G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201632198",
        "rs": 201632198
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-43808633-G-A?dataset=gnomad_r2_1",
        "id": "21-43808633-G-A",
        "variant": "21:43808633 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42388524-G-A?dataset=gnomad_r3",
        "id": "21-42388524-G-A",
        "variant": "21:42388524 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42388524-G-A?dataset=gnomad_r4",
        "id": "21-42388524-G-A",
        "variant": "21:42388524 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 42388524,
          "referenceAllele": "G",
          "start": 42388523
        }
      ],
      "hgvs": [
        "NC_000021.9:g.42388524G>A",
        "CM000683.2:g.42388524G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 43808633,
          "referenceAllele": "G",
          "start": 43808632
        }
      ],
      "hgvs": [
        "NC_000021.8:g.43808633G>A",
        "CM000683.1:g.43808633G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 42681702,
          "referenceAllele": "G",
          "start": 42681701
        }
      ],
      "hgvs": [
        "NC_000021.7:g.42681702G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12568,
          "referenceAllele": "C",
          "start": 12567
        }
      ],
      "hgvs": [
        "NG_011629.1:g.12568C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12568,
          "referenceAllele": "C",
          "start": 12567
        }
      ],
      "hgvs": [
        "NG_011629.2:g.12568C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673551"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.7:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.3:p.Arg109Trp",
        "hgvsWellDefined": "ENSP00000411013.3:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000644384.2:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494414.1:p.Arg109Trp",
        "hgvsWellDefined": "ENSP00000494414.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.325C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Arg109Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Arg109Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "C",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000652415.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498756.1:p.Arg109Trp",
        "hgvsWellDefined": "ENSP00000498756.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000291532.7:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291532.3:p.Arg109Trp",
        "hgvsWellDefined": "ENSP00000291532.3:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398397.3:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381434.3:p.Arg109Trp",
        "hgvsWellDefined": "ENSP00000381434.3:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398405.5:c.319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381442.1:p.Arg107Trp",
        "hgvsWellDefined": "ENSP00000381442.1:p.Arg107Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.6:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.2:p.Arg109Trp",
        "hgvsWellDefined": "ENSP00000411013.2:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000474596.5:n.193C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000482761.1:n.612C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381686",
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_001243246.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261814",
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.2:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_076927.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.2:c.-57C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:n.-57C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067359",
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_115781.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NR_046020.1:n.1281C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381686",
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.2:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_001243246.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261814",
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.3:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_076927.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067359",
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.2:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_115781.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381686",
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.3:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_001243246.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714742",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.325C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Arg109Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Arg109Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA261814",
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.4:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg109Trp",
        "hgvsWellDefined": "NP_076927.1:p.Arg109Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.3:c.-57C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:n.-57C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728830"
    }
  ],
  "type": "nucleotide"
}