{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10573193",
  "communityStandardTitle": [
    "NM_004654.4(USP9Y):c.2661C>T (p.Leu887=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2821782[alleleid]",
        "alleleId": 2821782,
        "preferredName": "NM_004654.4(USP9Y):c.2661C>T (p.Leu887=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2661886",
        "RCV": [
          "RCV003436915"
        ],
        "variationId": 2661886
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/Y-14889974-C-T",
        "id": "Y-14889974-C-T",
        "variant": "Y:14889974 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.14889974C>T?assembly=hg19",
        "id": "chrY:g.14889974C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.12778040C>T?assembly=hg38",
        "id": "chrY:g.12778040C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34601266",
        "rs": 34601266
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-14889974-C-T?dataset=gnomad_r2_1",
        "id": "Y-14889974-C-T",
        "variant": "Y:14889974 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-12778040-C-T?dataset=gnomad_r3",
        "id": "Y-12778040-C-T",
        "variant": "Y:12778040 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-12778040-C-T?dataset=gnomad_r4",
        "id": "Y-12778040-C-T",
        "variant": "Y:12778040 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 12778040,
          "referenceAllele": "C",
          "start": 12778039
        }
      ],
      "hgvs": [
        "NC_000024.10:g.12778040C>T",
        "CM000686.2:g.12778040C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 14889974,
          "referenceAllele": "C",
          "start": 14889973
        }
      ],
      "hgvs": [
        "NC_000024.9:g.14889974C>T",
        "CM000686.1:g.14889974C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "T",
          "end": 13399368,
          "referenceAllele": "C",
          "start": 13399367
        }
      ],
      "hgvs": [
        "NC_000024.8:g.13399368C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81815,
          "referenceAllele": "C",
          "start": 81814
        }
      ],
      "hgvs": [
        "NG_008311.1:g.81815C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3247,
          "referenceAllele": "C",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "ENST00000651177.1:c.2661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498372.1:p.Leu887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3606,
          "referenceAllele": "C",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "ENST00000338981.7:c.2661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342812.3:p.Leu887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338981.7:c.2661C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004654.4:c.2661C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342812.3:p.Leu887="
          },
          "RefSeq": {
            "hgvs": "NP_004645.2:p.Leu887="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2673,
          "referenceAllele": "C",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "ENST00000426564.6:n.2673C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562356",
      "coordinates": [
        {
          "allele": "T",
          "end": 3606,
          "referenceAllele": "C",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "NM_004654.3:c.2661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004645.2:p.Leu887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2744,
          "referenceAllele": "C",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "XM_011531469.1:c.2661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529771.1:p.Leu887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2676,
          "referenceAllele": "C",
          "start": 2675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "XM_011531470.1:c.2427C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529772.1:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2761,
          "referenceAllele": "C",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "XM_017030078.2:c.2676C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885567.1:p.Leu892="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562356",
      "coordinates": [
        {
          "allele": "T",
          "end": 3606,
          "referenceAllele": "C",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "NM_004654.4:c.2661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004645.2:p.Leu887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338981.7:c.2661C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004654.4:c.2661C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342812.3:p.Leu887="
          },
          "RefSeq": {
            "hgvs": "NP_004645.2:p.Leu887="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}