{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1878473461",
  "communityStandardTitle": [
    "NM_004959.5(NR5A1):c.18C= (p.Asp6=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/606231205",
        "rs": 606231205
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878920353",
        "rs": 878920353
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 124503378,
          "referenceAllele": "G",
          "start": 124503377
        }
      ],
      "hgvs": [
        "NC_000009.12:g.124503378G=",
        "CM000671.2:g.124503378G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 127265657,
          "referenceAllele": "G",
          "start": 127265656
        }
      ],
      "hgvs": [
        "NC_000009.11:g.127265657G=",
        "CM000671.1:g.127265657G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 126305478,
          "referenceAllele": "G",
          "start": 126305477
        }
      ],
      "hgvs": [
        "NC_000009.10:g.126305478G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9043,
          "referenceAllele": "C",
          "start": 9042
        }
      ],
      "hgvs": [
        "NG_008176.1:g.9043C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000920"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.9:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.18C="
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.18C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Asp6="
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Asp6="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215,
          "referenceAllele": "C",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.8:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000455734.1:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393245.1:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000620110.4:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483309.1:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075745255",
      "coordinates": [
        {
          "allele": "C",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.4:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251871.2:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251928.1:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251872.3:c.-102C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251929.1:n.-102C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518455.1:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516757.1:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518456.1:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516758.1:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075745255",
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.5:c.18C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Asp6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.18C="
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.18C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Asp6="
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Asp6="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}