{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA199728689",
  "communityStandardTitle": [
    "NM_004959.5(NR5A1):c.764G>A (p.Arg255His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127262475C>T?assembly=hg19",
        "id": "chr9:g.127262475C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.124500196C>T?assembly=hg38",
        "id": "chr9:g.124500196C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894118",
        "rs": 104894118
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127262475-C-T?dataset=gnomad_r2_1",
        "id": "9-127262475-C-T",
        "variant": "9:127262475 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-124500196-C-T?dataset=gnomad_r3",
        "id": "9-124500196-C-T",
        "variant": "9:124500196 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-124500196-C-T?dataset=gnomad_r4",
        "id": "9-124500196-C-T",
        "variant": "9:124500196 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 124500196,
          "referenceAllele": "C",
          "start": 124500195
        }
      ],
      "hgvs": [
        "NC_000009.12:g.124500196C>T",
        "CM000671.2:g.124500196C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 127262475,
          "referenceAllele": "C",
          "start": 127262474
        }
      ],
      "hgvs": [
        "NC_000009.11:g.127262475C>T",
        "CM000671.1:g.127262475C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 126302296,
          "referenceAllele": "C",
          "start": 126302295
        }
      ],
      "hgvs": [
        "NC_000009.10:g.126302296C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12225,
          "referenceAllele": "G",
          "start": 12224
        }
      ],
      "hgvs": [
        "NG_008176.1:g.12225G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000920"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.9:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Arg255His",
        "hgvsWellDefined": "ENSP00000362690.4:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.764G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.764G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Arg255His"
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Arg255His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373587.3:c.116G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362689.3:p.Arg39His",
        "hgvsWellDefined": "ENSP00000362689.3:p.Arg39His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000373588.8:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362690.4:p.Arg255His",
        "hgvsWellDefined": "ENSP00000362690.4:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "ENST00000620110.4:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483309.1:p.Arg255His",
        "hgvsWellDefined": "ENSP00000483309.1:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621844",
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.4:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Arg255His",
        "hgvsWellDefined": "NP_004950.2:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251871.2:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251928.1:p.Arg255His",
        "hgvsWellDefined": "XP_005251928.1:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_005251872.3:c.503G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251929.1:p.Arg168His",
        "hgvsWellDefined": "XP_005251929.1:p.Arg168His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518455.1:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516757.1:p.Arg255His",
        "hgvsWellDefined": "XP_011516757.1:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "XM_011518456.1:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516758.1:p.Arg255His",
        "hgvsWellDefined": "XP_011516758.1:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621844",
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007983",
      "geneNCBI_id": 2516,
      "geneSymbol": "NR5A1",
      "hgvs": [
        "NM_004959.5:c.764G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004950.2:p.Arg255His",
        "hgvsWellDefined": "NP_004950.2:p.Arg255His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666741",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373588.9:c.764G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004959.5:c.764G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362690.4:p.Arg255His"
          },
          "RefSeq": {
            "hgvs": "NP_004950.2:p.Arg255His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}