{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409848870",
  "communityStandardTitle": [
    "NM_002772.3(TMPRSS15):c.2194C>A (p.Pro732Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.19670118G>T?assembly=hg19",
        "id": "chr21:g.19670118G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.18297801G>T?assembly=hg38",
        "id": "chr21:g.18297801G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2824721",
        "rs": 2824721
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 18297801,
          "referenceAllele": "G",
          "start": 18297800
        }
      ],
      "hgvs": [
        "NC_000021.9:g.18297801G>T",
        "CM000683.2:g.18297801G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 19670118,
          "referenceAllele": "G",
          "start": 19670117
        }
      ],
      "hgvs": [
        "NC_000021.8:g.19670118G>T",
        "CM000683.1:g.19670118G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 18591989,
          "referenceAllele": "G",
          "start": 18591988
        }
      ],
      "hgvs": [
        "NC_000021.7:g.18591989G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2357,
          "referenceAllele": "C",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "ENST00000284885.8:c.2194C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284885.3:p.Pro732Thr",
        "hgvsWellDefined": "ENSP00000284885.3:p.Pro732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000284885.8:c.2194C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002772.3:c.2194C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284885.3:p.Pro732Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002763.3:p.Pro732Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "C",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "ENST00000284885.7:c.2194C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284885.3:p.Pro732Thr",
        "hgvsWellDefined": "ENSP00000284885.3:p.Pro732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529654.1:c.2329C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527956.1:p.Pro777Thr",
        "hgvsWellDefined": "XP_011527956.1:p.Pro777Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2417,
          "referenceAllele": "C",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529655.1:c.2329C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527957.1:p.Pro777Thr",
        "hgvsWellDefined": "XP_011527957.1:p.Pro777Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529656.1:c.2329C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527958.1:p.Pro777Thr",
        "hgvsWellDefined": "XP_011527958.1:p.Pro777Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2454,
          "referenceAllele": "C",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529657.1:c.2284C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527959.1:p.Pro762Thr",
        "hgvsWellDefined": "XP_011527959.1:p.Pro762Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2418,
          "referenceAllele": "C",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529658.1:c.2248C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527960.1:p.Pro750Thr",
        "hgvsWellDefined": "XP_011527960.1:p.Pro750Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529659.1:c.2239C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527961.1:p.Pro747Thr",
        "hgvsWellDefined": "XP_011527961.1:p.Pro747Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2500,
          "referenceAllele": "C",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529654.2:c.2329C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527956.1:p.Pro777Thr",
        "hgvsWellDefined": "XP_011527956.1:p.Pro777Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2424,
          "referenceAllele": "C",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529656.2:c.2329C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527958.1:p.Pro777Thr",
        "hgvsWellDefined": "XP_011527958.1:p.Pro777Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2455,
          "referenceAllele": "C",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529657.2:c.2284C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527959.1:p.Pro762Thr",
        "hgvsWellDefined": "XP_011527959.1:p.Pro762Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2419,
          "referenceAllele": "C",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "XM_011529658.2:c.2248C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527960.1:p.Pro750Thr",
        "hgvsWellDefined": "XP_011527960.1:p.Pro750Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088321693",
      "coordinates": [
        {
          "allele": "A",
          "end": 2357,
          "referenceAllele": "C",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009490",
      "geneNCBI_id": 5651,
      "geneSymbol": "TMPRSS15",
      "hgvs": [
        "NM_002772.3:c.2194C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002763.3:p.Pro732Thr",
        "hgvsWellDefined": "NP_002763.3:p.Pro732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000284885.8:c.2194C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002772.3:c.2194C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284885.3:p.Pro732Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002763.3:p.Pro732Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}