{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5235469",
  "communityStandardTitle": [
    "NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3763632",
        "active": true,
        "id": "COSM3763632"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253283[alleleid]",
        "alleleId": 253283,
        "preferredName": "NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/259591",
        "RCV": [
          "RCV000251828",
          "RCV001523405",
          "RCV001660271"
        ],
        "variationId": 259591
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-127262802-C-G",
        "id": "9-127262802-C-G",
        "variant": "9:127262802 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127262802C>G?assembly=hg19",
        "id": "chr9:g.127262802C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.124500523C>G?assembly=hg38",
        "id": "chr9:g.124500523C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1110061",
        "rs": 1110061
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127262802-C-G?dataset=gnomad_r2_1",
        "id": "9-127262802-C-G",
        "variant": "9:127262802 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-124500523-C-G?dataset=gnomad_r3",
        "id": "9-124500523-C-G",
        "variant": "9:124500523 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-124500523-C-G?dataset=gnomad_r4",
        "id": "9-124500523-C-G",
        "variant": "9:124500523 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 124500523,
          "referenceAllele": "C",
          "start": 124500522
        }
      ],
      "hgvs": [
        "NC_000009.12:g.124500523C>G",
        "CM000671.2:g.124500523C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 127262802,
          "referenceAllele": "C",
          "start": 127262801
        }
      ],
      "hgvs": [
        "NC_000009.11:g.127262802C>G",
        "CM000671.1:g.127262802C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 126302623,
          "referenceAllele": "C",
          "start": 126302622
        }
      ],
      "hgvs": [
        "NC_000009.10:g.126302623C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11898,
          "referenceAllele": "G",
          "start": 11897
        }
      ],
      "hgvs": [
        "NG_008176.1:g.11898G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000920"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.9:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Gly146Ala",
        "hgvsWellDefined": "ENSP00000362690.4:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.437G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.437G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Gly146Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Gly146Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "G",
          "start": 39,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373587.3:c.40-251G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362689.3:n.40-251G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.8:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Gly146Ala",
        "hgvsWellDefined": "ENSP00000362690.4:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000455734.1:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393245.1:p.Gly146Ala",
        "hgvsWellDefined": "ENSP00000393245.1:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000620110.4:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483309.1:p.Gly146Ala",
        "hgvsWellDefined": "ENSP00000483309.1:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493839",
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "G",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.4:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Gly146Ala",
        "hgvsWellDefined": "NP_004950.2:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251871.2:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251928.1:p.Gly146Ala",
        "hgvsWellDefined": "XP_005251928.1:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251872.3:c.176G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251929.1:p.Gly59Ala",
        "hgvsWellDefined": "XP_005251929.1:p.Gly59Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518455.1:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516757.1:p.Gly146Ala",
        "hgvsWellDefined": "XP_011516757.1:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518456.1:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516758.1:p.Gly146Ala",
        "hgvsWellDefined": "XP_011516758.1:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493839",
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.5:c.437G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Gly146Ala",
        "hgvsWellDefined": "NP_004950.2:p.Gly146Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.437G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.437G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Gly146Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Gly146Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}