{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580610311",
  "communityStandardTitle": [
    "NM_005448.2(BMP15):c.-9C>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3810682",
        "rs": 3810682
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-50910775-C-T?dataset=gnomad_r4",
        "id": "X-50910775-C-T",
        "variant": "X:50910775 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 50910775,
          "referenceAllele": "C",
          "start": 50910774
        }
      ],
      "hgvs": [
        "NC_000023.11:g.50910775C>T",
        "CM000685.2:g.50910775C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 50653775,
          "referenceAllele": "C",
          "start": 50653774
        }
      ],
      "hgvs": [
        "NC_000023.10:g.50653775C>T",
        "CM000685.1:g.50653775C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 50670515,
          "referenceAllele": "C",
          "start": 50670514
        }
      ],
      "hgvs": [
        "NC_000023.9:g.50670515C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4992,
          "referenceAllele": "C",
          "start": 4991
        }
      ],
      "hgvs": [
        "NG_012894.1:g.4992C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002615"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41,
          "referenceAllele": "C",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001068",
      "geneNCBI_id": 9210,
      "geneSymbol": "BMP15",
      "hgvs": [
        "ENST00000252677.4:c.-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252677.3:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741549",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252677.4:c.-9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005448.2:c.-9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252677.3:n.-9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005439.2:n.-9C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41,
          "referenceAllele": "C",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001068",
      "geneNCBI_id": 9210,
      "geneSymbol": "BMP15",
      "hgvs": [
        "NM_005448.2:c.-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005439.2:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252677.4:c.-9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005448.2:c.-9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252677.3:n.-9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005439.2:n.-9C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}