{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2469905902",
  "communityStandardTitle": [
    "NM_001143.2(AMELY):c.-113+1904T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/112359018",
        "rs": 112359018
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "A",
          "end": 6909769,
          "referenceAllele": "A",
          "start": 6909768
        }
      ],
      "hgvs": [
        "NC_000024.10:g.6909769A=",
        "CM000686.2:g.6909769A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000072"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "A",
          "end": 6777810,
          "referenceAllele": "A",
          "start": 6777809
        }
      ],
      "hgvs": [
        "NC_000024.9:g.6777810A=",
        "CM000686.1:g.6777810A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000048"
    },
    {
      "chromosome": "Y",
      "coordinates": [
        {
          "allele": "A",
          "end": 6837810,
          "referenceAllele": "A",
          "start": 6837809
        }
      ],
      "hgvs": [
        "NC_000024.8:g.6837810A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000024"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "endIntronDirection": "+",
          "endIntronOffset": 1904,
          "referenceAllele": "T",
          "start": 80,
          "startIntronDirection": "+",
          "startIntronOffset": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000462",
      "geneNCBI_id": 266,
      "geneSymbol": "AMELY",
      "hgvs": [
        "ENST00000651267.2:c.-113+1904T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498344.1:n.-113+1904T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651267.2:c.-113+1904T="
          },
          "RefSeq": {
            "hgvs": "NM_001143.2:c.-113+1904T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498344.1:n.-113+1904T="
          },
          "RefSeq": {
            "hgvs": "NP_001134.1:n.-113+1904T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "endIntronDirection": "+",
          "endIntronOffset": 1904,
          "referenceAllele": "T",
          "start": 102,
          "startIntronDirection": "+",
          "startIntronOffset": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000462",
      "geneNCBI_id": 266,
      "geneSymbol": "AMELY",
      "hgvs": [
        "ENST00000651267.1:c.-113+1904T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498344.1:n.-113+1904T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 1904,
          "referenceAllele": "T",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000462",
      "geneNCBI_id": 266,
      "geneSymbol": "AMELY",
      "hgvs": [
        "XM_011531472.1:c.-113+1904T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529774.1:n.-113+1904T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "A",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018502",
      "geneNCBI_id": 90665,
      "geneSymbol": "TBL1Y",
      "hgvs": [
        "XM_024452497.1:c.-685A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308265.1:n.-685A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "endIntronDirection": "+",
          "endIntronOffset": 1904,
          "referenceAllele": "T",
          "start": 80,
          "startIntronDirection": "+",
          "startIntronOffset": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000462",
      "geneNCBI_id": 266,
      "geneSymbol": "AMELY",
      "hgvs": [
        "NM_001143.2:c.-113+1904T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001134.1:n.-113+1904T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712632",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651267.2:c.-113+1904T="
          },
          "RefSeq": {
            "hgvs": "NM_001143.2:c.-113+1904T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498344.1:n.-113+1904T="
          },
          "RefSeq": {
            "hgvs": "NP_001134.1:n.-113+1904T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}