{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2471043995",
  "communityStandardTitle": [
    "NM_004681.4(EIF1AY):c.338-419G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13447354",
        "rs": 13447354
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "G",
          "end": 20589065,
          "referenceAllele": "G",
          "start": 20589064
        }
      ],
      "hgvs": [
        "NC_000024.10:g.20589065G=",
        "CM000686.2:g.20589065G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "G",
          "end": 22750951,
          "referenceAllele": "G",
          "start": 22750950
        }
      ],
      "hgvs": [
        "NC_000024.9:g.22750951G=",
        "CM000686.1:g.22750951G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "G",
          "end": 21160339,
          "referenceAllele": "G",
          "start": 21160338
        }
      ],
      "hgvs": [
        "NC_000024.8:g.21160339G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "ENST00000361365.7:c.338-419G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354722.2:n.338-419G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749452",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361365.7:c.338-419G="
          },
          "RefSeq": {
            "hgvs": "NM_004681.4:c.338-419G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354722.2:n.338-419G="
          },
          "RefSeq": {
            "hgvs": "NP_004672.2:n.338-419G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "ENST00000361365.6:c.338-419G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354722.2:n.338-419G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 364,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "ENST00000382772.3:c.287-419G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372222.3:n.287-419G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2348,
          "referenceAllele": "G",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "ENST00000464196.5:n.2348G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 259,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "ENST00000485584.1:n.260-419G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "NM_001278612.1:c.287-419G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265541.1:n.287-419G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 498,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "NM_004681.3:c.338-419G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004672.2:n.338-419G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "NM_004681.4:c.338-419G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004672.2:n.338-419G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361365.7:c.338-419G="
          },
          "RefSeq": {
            "hgvs": "NM_004681.4:c.338-419G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354722.2:n.338-419G="
          },
          "RefSeq": {
            "hgvs": "NP_004672.2:n.338-419G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "endIntronDirection": "-",
          "endIntronOffset": 418,
          "referenceAllele": "G",
          "start": 382,
          "startIntronDirection": "-",
          "startIntronOffset": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003252",
      "geneNCBI_id": 9086,
      "geneSymbol": "EIF1AY",
      "hgvs": [
        "NM_001278612.2:c.287-419G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265541.1:n.287-419G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715609"
    }
  ],
  "type": "nucleotide"
}