{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA337722085",
  "communityStandardTitle": [
    "NM_004660.5(DDX3Y):c.45+613C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.15017505C>T?assembly=hg19",
        "id": "chrY:g.15017505C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.12905594C>T?assembly=hg38",
        "id": "chrY:g.12905594C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9341285",
        "rs": 9341285
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-12905594-C-T?dataset=gnomad_r3",
        "id": "Y-12905594-C-T",
        "variant": "Y:12905594 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-12905594-C-T?dataset=gnomad_r4",
        "id": "Y-12905594-C-T",
        "variant": "Y:12905594 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 12905594,
          "referenceAllele": "C",
          "start": 12905593
        }
      ],
      "hgvs": [
        "NC_000024.10:g.12905594C>T",
        "CM000686.2:g.12905594C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 15017505,
          "referenceAllele": "C",
          "start": 15017504
        }
      ],
      "hgvs": [
        "NC_000024.9:g.15017505C>T",
        "CM000686.1:g.15017505C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 13526899,
          "referenceAllele": "C",
          "start": 13526898
        }
      ],
      "hgvs": [
        "NC_000024.8:g.13526899C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6487,
          "referenceAllele": "C",
          "start": 6486
        }
      ],
      "hgvs": [
        "NG_012831.1:g.6487C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002564"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000336079.8:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336725.3:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747547",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336079.8:c.45+613C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004660.5:c.45+613C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336725.3:n.45+613C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004651.2:n.45+613C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000336079.7:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336725.3:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000360160.8:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353284.4:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000454054.5:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398953.1:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 133,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "ENST00000493363.1:n.133+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001122665.2:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116137.1:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_004660.4:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004651.2:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "XM_006724878.1:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724941.1:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "XM_011531471.1:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529773.1:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001122665.3:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116137.1:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001324195.1:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311124.1:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136716.1:n.196+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136717.1:n.196+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136718.1:n.196+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136719.1:n.196+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136720.1:n.196+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136721.1:n.124+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 149,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "XR_001756014.2:n.149+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_004660.5:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004651.2:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336079.8:c.45+613C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004660.5:c.45+613C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336725.3:n.45+613C>T"
          },
          "RefSeq": {
            "hgvs": "NP_004651.2:n.45+613C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NM_001324195.2:c.45+613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311124.1:n.45+613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136716.2:n.114+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136717.2:n.114+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136718.2:n.114+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136719.2:n.114+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136720.2:n.114+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 613,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002699",
      "geneNCBI_id": 8653,
      "geneSymbol": "DDX3Y",
      "hgvs": [
        "NR_136721.2:n.114+613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731038"
    }
  ],
  "type": "nucleotide"
}