{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1878461922",
  "communityStandardTitle": [
    "NM_004959.5(NR5A1):c.937C= (p.Arg313=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517779",
        "rs": 1057517779
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 124493083,
          "referenceAllele": "G",
          "start": 124493082
        }
      ],
      "hgvs": [
        "NC_000009.12:g.124493083G=",
        "CM000671.2:g.124493083G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 127255362,
          "referenceAllele": "G",
          "start": 127255361
        }
      ],
      "hgvs": [
        "NC_000009.11:g.127255362G=",
        "CM000671.1:g.127255362G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 126295183,
          "referenceAllele": "G",
          "start": 126295182
        }
      ],
      "hgvs": [
        "NC_000009.10:g.126295183G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19338,
          "referenceAllele": "C",
          "start": 19337
        }
      ],
      "hgvs": [
        "NG_008176.1:g.19338C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000920"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.9:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.937C="
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.937C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Arg313="
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Arg313="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373587.3:c.289C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362689.3:p.Arg97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.8:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 1854,
          "referenceAllele": "C",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000620110.4:c.871-1855C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483309.1:n.871-1855C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076043152",
      "coordinates": [
        {
          "allele": "C",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.4:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251871.2:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251928.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251872.3:c.676C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251929.1:p.Arg226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518455.1:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516757.1:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 7007,
          "referenceAllele": "C",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 7006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518456.1:c.870+7007C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516758.1:n.870+7007C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076043152",
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.5:c.937C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Arg313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.937C="
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.937C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Arg313="
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Arg313="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}