{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10573268",
  "communityStandardTitle": [
    "NM_004654.4(USP9Y):c.3678A>G (p.Ile1226Met)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/Y-14902456-A-G",
        "id": "Y-14902456-A-G",
        "variant": "Y:14902456 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.14902456A>G?assembly=hg19",
        "id": "chrY:g.14902456A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrY:g.12790523A>G?assembly=hg38",
        "id": "chrY:g.12790523A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202177274",
        "rs": 202177274
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-14902456-A-G?dataset=gnomad_r2_1",
        "id": "Y-14902456-A-G",
        "variant": "Y:14902456 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-12790523-A-G?dataset=gnomad_r3",
        "id": "Y-12790523-A-G",
        "variant": "Y:12790523 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/Y-12790523-A-G?dataset=gnomad_r4",
        "id": "Y-12790523-A-G",
        "variant": "Y:12790523 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "G",
          "end": 12790523,
          "referenceAllele": "A",
          "start": 12790522
        }
      ],
      "hgvs": [
        "NC_000024.10:g.12790523A>G",
        "CM000686.2:g.12790523A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "G",
          "end": 14902456,
          "referenceAllele": "A",
          "start": 14902455
        }
      ],
      "hgvs": [
        "NC_000024.9:g.14902456A>G",
        "CM000686.1:g.14902456A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "G",
          "end": 13411850,
          "referenceAllele": "A",
          "start": 13411849
        }
      ],
      "hgvs": [
        "NC_000024.8:g.13411850A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94297,
          "referenceAllele": "A",
          "start": 94296
        }
      ],
      "hgvs": [
        "NG_008311.1:g.94297A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4264,
          "referenceAllele": "A",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "ENST00000651177.1:c.3678A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498372.1:p.Ile1226Met",
        "hgvsWellDefined": "ENSP00000498372.1:p.Ile1226Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4623,
          "referenceAllele": "A",
          "start": 4622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "ENST00000338981.7:c.3678A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342812.3:p.Ile1226Met",
        "hgvsWellDefined": "ENSP00000342812.3:p.Ile1226Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338981.7:c.3678A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004654.4:c.3678A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342812.3:p.Ile1226Met"
          },
          "RefSeq": {
            "hgvs": "NP_004645.2:p.Ile1226Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3690,
          "referenceAllele": "A",
          "start": 3689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "ENST00000426564.6:n.3690A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063157837",
      "coordinates": [
        {
          "allele": "G",
          "end": 4623,
          "referenceAllele": "A",
          "start": 4622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "NM_004654.3:c.3678A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004645.2:p.Ile1226Met",
        "hgvsWellDefined": "NP_004645.2:p.Ile1226Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3761,
          "referenceAllele": "A",
          "start": 3760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "XM_011531469.1:c.3678A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529771.1:p.Ile1226Met",
        "hgvsWellDefined": "XP_011529771.1:p.Ile1226Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3693,
          "referenceAllele": "A",
          "start": 3692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "XM_011531470.1:c.3444A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529772.1:p.Ile1148Met",
        "hgvsWellDefined": "XP_011529772.1:p.Ile1148Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3778,
          "referenceAllele": "A",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "XM_017030078.2:c.3693A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885567.1:p.Ile1231Met",
        "hgvsWellDefined": "XP_016885567.1:p.Ile1231Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063157837",
      "coordinates": [
        {
          "allele": "G",
          "end": 4623,
          "referenceAllele": "A",
          "start": 4622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012633",
      "geneNCBI_id": 8287,
      "geneSymbol": "USP9Y",
      "hgvs": [
        "NM_004654.4:c.3678A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004645.2:p.Ile1226Met",
        "hgvsWellDefined": "NP_004645.2:p.Ile1226Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338981.7:c.3678A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004654.4:c.3678A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342812.3:p.Ile1226Met"
          },
          "RefSeq": {
            "hgvs": "NP_004645.2:p.Ile1226Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}