{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1095688",
  "communityStandardTitle": [
    "NM_005060.4(RORC):c.1304A>G (p.Glu435Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=930037[alleleid]",
        "alleleId": 930037,
        "preferredName": "NM_005060.4(RORC):c.1304A>G (p.Glu435Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/936652",
        "RCV": [
          "RCV001205492"
        ],
        "variationId": 936652
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-151783892-T-C",
        "id": "1-151783892-T-C",
        "variant": "1:151783892 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.151783892T>C?assembly=hg19",
        "id": "chr1:g.151783892T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.151811416T>C?assembly=hg38",
        "id": "chr1:g.151811416T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148168558",
        "rs": 148168558
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-151783892-T-C?dataset=gnomad_r2_1",
        "id": "1-151783892-T-C",
        "variant": "1:151783892 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-151811416-T-C?dataset=gnomad_r3",
        "id": "1-151811416-T-C",
        "variant": "1:151811416 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-151811416-T-C?dataset=gnomad_r4",
        "id": "1-151811416-T-C",
        "variant": "1:151811416 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 151811416,
          "referenceAllele": "T",
          "start": 151811415
        }
      ],
      "hgvs": [
        "NC_000001.11:g.151811416T>C",
        "CM000663.2:g.151811416T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 151783892,
          "referenceAllele": "T",
          "start": 151783891
        }
      ],
      "hgvs": [
        "NC_000001.10:g.151783892T>C",
        "CM000663.1:g.151783892T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 150050516,
          "referenceAllele": "T",
          "start": 150050515
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150050516T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25457,
          "referenceAllele": "A",
          "start": 25456
        }
      ],
      "hgvs": [
        "NG_029118.1:g.25457A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004268"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000652040.2:c.1019A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498548.2:p.Glu340Gly",
        "hgvsWellDefined": "ENSP00000498548.2:p.Glu340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000697811.1:c.952A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513447.1:p.Arg318Gly",
        "hgvsWellDefined": "ENSP00000513447.1:p.Arg318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000318247.7:c.1304A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327025.6:p.Glu435Gly",
        "hgvsWellDefined": "ENSP00000327025.6:p.Glu435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318247.7:c.1304A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005060.4:c.1304A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327025.6:p.Glu435Gly"
          },
          "RefSeq": {
            "hgvs": "NP_005051.2:p.Glu435Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1401,
          "referenceAllele": "A",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000356728.11:c.1241A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349164.6:p.Glu414Gly",
        "hgvsWellDefined": "ENSP00000349164.6:p.Glu414Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000638901.1:c.1495A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "referenceAllele": "A",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000651814.1:c.*261A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498691.1:n.*261A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "A",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000651893.1:c.581A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "A",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000318247.6:c.1304A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327025.6:p.Glu435Gly",
        "hgvsWellDefined": "ENSP00000327025.6:p.Glu435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "referenceAllele": "A",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000356728.10:c.1241A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349164.6:p.Glu414Gly",
        "hgvsWellDefined": "ENSP00000349164.6:p.Glu414Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3374,
          "referenceAllele": "A",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "ENST00000480719.1:n.3374A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825227910",
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "NM_001001523.1:c.1241A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001523.1:p.Glu414Gly",
        "hgvsWellDefined": "NP_001001523.1:p.Glu414Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721089",
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "A",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "NM_005060.3:c.1304A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005051.2:p.Glu435Gly",
        "hgvsWellDefined": "NP_005051.2:p.Glu435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1849,
          "referenceAllele": "A",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "XM_006711484.2:c.1703A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711547.2:p.Glu568Gly",
        "hgvsWellDefined": "XP_006711547.2:p.Glu568Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "XR_426792.2:n.2065A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "A",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "XM_006711484.4:c.1703A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711547.2:p.Glu568Gly",
        "hgvsWellDefined": "XP_006711547.2:p.Glu568Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139721089",
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "NM_005060.4:c.1304A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005051.2:p.Glu435Gly",
        "hgvsWellDefined": "NP_005051.2:p.Glu435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318247.7:c.1304A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005060.4:c.1304A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327025.6:p.Glu435Gly"
          },
          "RefSeq": {
            "hgvs": "NP_005051.2:p.Glu435Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825227910",
      "coordinates": [
        {
          "allele": "G",
          "end": 1401,
          "referenceAllele": "A",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010260",
      "geneNCBI_id": 6097,
      "geneSymbol": "RORC",
      "hgvs": [
        "NM_001001523.2:c.1241A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001523.1:p.Glu414Gly",
        "hgvsWellDefined": "NP_001001523.1:p.Glu414Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675018"
    }
  ],
  "type": "nucleotide"
}