{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1878461938",
  "communityStandardTitle": [
    "NM_004959.5(NR5A1):c.877G= (p.Asp293=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918655",
        "rs": 121918655
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 124493143,
          "referenceAllele": "C",
          "start": 124493142
        }
      ],
      "hgvs": [
        "NC_000009.12:g.124493143C=",
        "CM000671.2:g.124493143C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 127255422,
          "referenceAllele": "C",
          "start": 127255421
        }
      ],
      "hgvs": [
        "NC_000009.11:g.127255422C=",
        "CM000671.1:g.127255422C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 126295243,
          "referenceAllele": "C",
          "start": 126295242
        }
      ],
      "hgvs": [
        "NC_000009.10:g.126295243C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19278,
          "referenceAllele": "G",
          "start": 19277
        }
      ],
      "hgvs": [
        "NG_008176.1:g.19278G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000920"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.9:c.877G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Asp293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.877G="
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.877G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Asp293="
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Asp293="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373587.3:c.229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362689.3:p.Asp77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.8:c.877G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Asp293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 1914,
          "referenceAllele": "G",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000620110.4:c.871-1915G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483309.1:n.871-1915G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.4:c.877G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Asp293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251871.2:c.877G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251928.1:p.Asp293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251872.3:c.616G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251929.1:p.Asp206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "G",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518455.1:c.877G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516757.1:p.Asp293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 6947,
          "referenceAllele": "G",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 6946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518456.1:c.870+6947G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516758.1:n.870+6947G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625868",
      "coordinates": [
        {
          "allele": "G",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.5:c.877G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Asp293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.877G="
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.877G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Asp293="
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Asp293="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}