{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915940885",
  "communityStandardTitle": [
    "NM_000330.4(RS1):c.52+3A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1292116[alleleid]",
        "alleleId": 1292116,
        "preferredName": "NM_000330.4(RS1):c.52+3A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301833",
        "RCV": [
          "RCV001733782",
          "RCV002508817"
        ],
        "variationId": 1301833
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147209764",
        "rs": 2147209764
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18672014,
          "referenceAllele": "T",
          "start": 18672013
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18672014T>C",
        "CM000685.2:g.18672014T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18690134,
          "referenceAllele": "T",
          "start": 18690133
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18690134T>C",
        "CM000685.1:g.18690134T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 18600055,
          "referenceAllele": "T",
          "start": 18600054
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18600055T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10435,
          "referenceAllele": "A",
          "start": 10434
        }
      ],
      "hgvs": [
        "NG_008659.3:g.10435A>G",
        "LRG_702:g.10435A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 92,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.4:c.52+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:n.52+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.52+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.52+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:n.52+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:n.52+3A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.3:c.52+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:n.52+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 87,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.3:c.52+3A>G",
        "LRG_702t1:c.52+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:n.52+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 92,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.4:c.52+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:n.52+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.52+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.52+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:n.52+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:n.52+3A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}