{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2470564548",
  "communityStandardTitle": [
    "NM_004660.5(DDX3Y):c.104-693T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9341290",
        "rs": 9341290
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 12908667,
          "referenceAllele": "T",
          "start": 12908666
        }
      ],
      "hgvs": [
        "NC_000024.10:g.12908667T=",
        "CM000686.2:g.12908667T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 15020578,
          "referenceAllele": "T",
          "start": 15020577
        }
      ],
      "hgvs": [
        "NC_000024.9:g.15020578T=",
        "CM000686.1:g.15020578T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 13529972,
          "referenceAllele": "T",
          "start": 13529971
        }
      ],
      "hgvs": [
        "NC_000024.8:g.13529972T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9560,
          "referenceAllele": "T",
          "start": 9559
        }
      ],
      "hgvs": [
        "NG_012831.1:g.9560T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002564"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000336079.8:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336725.3:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747547",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336079.8:c.104-693T="
          },
          "RefSeq": {
            "hgvs": "NM_004660.5:c.104-693T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336725.3:n.104-693T="
          },
          "RefSeq": {
            "hgvs": "NP_004651.2:n.104-693T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000336079.7:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336725.3:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000360160.8:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353284.4:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000440554.1:c.95-693T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400377.1:n.95-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 479,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000454054.5:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398953.1:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000493363.1:n.192-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001122665.2:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116137.1:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001302552.1:c.95-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289481.1:n.95-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_004660.4:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004651.2:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "XM_006724878.1:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724941.1:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "XM_011531471.1:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529773.1:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 521,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001122665.3:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116137.1:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001302552.2:c.95-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289481.1:n.95-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001324195.1:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311124.1:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136716.1:n.255-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136717.1:n.255-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136718.1:n.255-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136719.1:n.255-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136720.1:n.255-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136721.1:n.183-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136722.1:n.170-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136723.1:n.170-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136724.1:n.170-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "XR_001756014.2:n.208-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_004660.5:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004651.2:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336079.8:c.104-693T="
          },
          "RefSeq": {
            "hgvs": "NM_004660.5:c.104-693T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336725.3:n.104-693T="
          },
          "RefSeq": {
            "hgvs": "NP_004651.2:n.104-693T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 153,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 153,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001302552.3:c.95-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001289481.1:n.95-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001324195.2:c.104-693T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001311124.1:n.104-693T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136716.2:n.173-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136717.2:n.173-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136718.2:n.173-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136719.2:n.173-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136720.2:n.173-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 692,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136721.2:n.173-693T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731038"
    }
  ],
  "type": "nucleotide"
}