{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA246239",
  "communityStandardTitle": [
    "NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195018[alleleid]",
        "alleleId": 195018,
        "preferredName": "NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197857",
        "RCV": [
          "RCV000493533",
          "RCV001140696",
          "RCV003416097"
        ],
        "variationId": 197857
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-43808632-C-T",
        "id": "21-43808632-C-T",
        "variant": "21:43808632 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.43808632C>T?assembly=hg19",
        "id": "chr21:g.43808632C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.42388523C>T?assembly=hg38",
        "id": "chr21:g.42388523C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139484231",
        "rs": 139484231
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-43808632-C-T?dataset=gnomad_r2_1",
        "id": "21-43808632-C-T",
        "variant": "21:43808632 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42388523-C-T?dataset=gnomad_r3",
        "id": "21-42388523-C-T",
        "variant": "21:42388523 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-42388523-C-T?dataset=gnomad_r4",
        "id": "21-42388523-C-T",
        "variant": "21:42388523 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 42388523,
          "referenceAllele": "C",
          "start": 42388522
        }
      ],
      "hgvs": [
        "NC_000021.9:g.42388523C>T",
        "CM000683.2:g.42388523C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 43808632,
          "referenceAllele": "C",
          "start": 43808631
        }
      ],
      "hgvs": [
        "NC_000021.8:g.43808632C>T",
        "CM000683.1:g.43808632C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 42681701,
          "referenceAllele": "C",
          "start": 42681700
        }
      ],
      "hgvs": [
        "NC_000021.7:g.42681701C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12569,
          "referenceAllele": "G",
          "start": 12568
        }
      ],
      "hgvs": [
        "NG_011629.1:g.12569G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12569,
          "referenceAllele": "G",
          "start": 12568
        }
      ],
      "hgvs": [
        "NG_011629.2:g.12569G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673551"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.7:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.3:p.Arg109Gln",
        "hgvsWellDefined": "ENSP00000411013.3:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000644384.2:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494414.1:p.Arg109Gln",
        "hgvsWellDefined": "ENSP00000494414.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767792",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.326G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.326G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Arg109Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Arg109Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000652415.1:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498756.1:p.Arg109Gln",
        "hgvsWellDefined": "ENSP00000498756.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000291532.7:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291532.3:p.Arg109Gln",
        "hgvsWellDefined": "ENSP00000291532.3:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398397.3:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381434.3:p.Arg109Gln",
        "hgvsWellDefined": "ENSP00000381434.3:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000398405.5:c.320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381442.1:p.Arg107Gln",
        "hgvsWellDefined": "ENSP00000381442.1:p.Arg107Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000433957.6:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411013.2:p.Arg109Gln",
        "hgvsWellDefined": "ENSP00000411013.2:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000474596.5:n.194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "ENST00000482761.1:n.613G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381687",
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.1:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_001243246.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA246240",
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.2:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_076927.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.2:c.-56G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:n.-56G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067360",
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.1:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_115781.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NR_046020.1:n.1282G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051455"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381687",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.2:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_001243246.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA246240",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.3:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_076927.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067360",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032405.2:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115781.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_115781.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381687",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_001256317.3:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243246.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_001243246.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714742",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644384.2:c.326G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256317.3:c.326G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494414.1:p.Arg109Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001243246.1:p.Arg109Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA246240",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_024022.4:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_076927.1:p.Arg109Gln",
        "hgvsWellDefined": "NP_076927.1:p.Arg109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NM_032404.3:c.-56G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115780.1:n.-56G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728830"
    }
  ],
  "type": "nucleotide"
}