{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA143853",
  "communityStandardTitle": [
    "NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=65574[alleleid]",
        "alleleId": 65574,
        "preferredName": "NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50912",
        "RCV": [
          "RCV000043627"
        ],
        "variationId": 50912
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.5680916G>A?assembly=hg19",
        "id": "chr7:g.5680916G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.5641285G>A?assembly=hg38",
        "id": "chr7:g.5641285G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907368",
        "rs": 387907368
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-5641285-G-A?dataset=gnomad_r4",
        "id": "7-5641285-G-A",
        "variant": "7:5641285 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 5641285,
          "referenceAllele": "G",
          "start": 5641284
        }
      ],
      "hgvs": [
        "NC_000007.14:g.5641285G>A",
        "CM000669.2:g.5641285G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 5680916,
          "referenceAllele": "G",
          "start": 5680915
        }
      ],
      "hgvs": [
        "NC_000007.13:g.5680916G>A",
        "CM000669.1:g.5680916G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 5647442,
          "referenceAllele": "G",
          "start": 5647441
        }
      ],
      "hgvs": [
        "NC_000007.12:g.5647442G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145446,
          "referenceAllele": "C",
          "start": 145445
        }
      ],
      "hgvs": [
        "NG_029374.1:g.145446C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004356"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2443,
          "referenceAllele": "C",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "ENST00000389902.8:c.2251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374552.3:p.Arg751Cys",
        "hgvsWellDefined": "ENSP00000374552.3:p.Arg751Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752849",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389902.8:c.2251C>T"
          },
          "RefSeq": {
            "hgvs": "NM_207111.4:c.2251C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374552.3:p.Arg751Cys"
          },
          "RefSeq": {
            "hgvs": "NP_996994.1:p.Arg751Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2418,
          "referenceAllele": "C",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "ENST00000389900.8:c.*1368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374550.4:n.*1368C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2519,
          "referenceAllele": "C",
          "start": 2518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "ENST00000389902.7:c.2251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374552.3:p.Arg751Cys",
        "hgvsWellDefined": "ENSP00000374552.3:p.Arg751Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2305,
          "referenceAllele": "C",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "ENST00000425013.6:c.2080C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404602.2:p.Arg694Cys",
        "hgvsWellDefined": "ENSP00000404602.2:p.Arg694Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "ENST00000469375.1:n.468C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143854",
      "coordinates": [
        {
          "allele": "T",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "NM_207111.3:c.2251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996994.1:p.Arg751Cys",
        "hgvsWellDefined": "NP_996994.1:p.Arg751Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111083",
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "referenceAllele": "C",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "NM_207116.2:c.2080C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996999.1:p.Arg694Cys",
        "hgvsWellDefined": "NP_996999.1:p.Arg694Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2830,
          "referenceAllele": "C",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_005249785.2:c.2251C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249842.1:p.Arg751Cys",
        "hgvsWellDefined": "XP_005249842.1:p.Arg751Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2253,
          "referenceAllele": "C",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_006715748.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715811.1:p.Arg316Cys",
        "hgvsWellDefined": "XP_006715811.1:p.Arg316Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2598,
          "referenceAllele": "C",
          "start": 2597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_011515434.1:c.2251C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513736.1:p.Arg751Cys",
        "hgvsWellDefined": "XP_011513736.1:p.Arg751Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2249,
          "referenceAllele": "C",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_011515436.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513738.1:p.Arg316Cys",
        "hgvsWellDefined": "XP_011513738.1:p.Arg316Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2536,
          "referenceAllele": "C",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_011515436.2:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513738.1:p.Arg316Cys",
        "hgvsWellDefined": "XP_011513738.1:p.Arg316Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2334,
          "referenceAllele": "C",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_017012363.2:c.2080C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867852.1:p.Arg694Cys",
        "hgvsWellDefined": "XP_016867852.1:p.Arg694Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2506,
          "referenceAllele": "C",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_024446805.1:c.2251C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302573.1:p.Arg751Cys",
        "hgvsWellDefined": "XP_024302573.1:p.Arg751Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2711,
          "referenceAllele": "C",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_024446806.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302574.1:p.Arg316Cys",
        "hgvsWellDefined": "XP_024302574.1:p.Arg316Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2568,
          "referenceAllele": "C",
          "start": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "XM_024446807.1:c.946C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302575.1:p.Arg316Cys",
        "hgvsWellDefined": "XP_024302575.1:p.Arg316Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "NM_001377156.1:c.2080C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364085.1:p.Arg694Cys",
        "hgvsWellDefined": "NP_001364085.1:p.Arg694Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143854",
      "coordinates": [
        {
          "allele": "T",
          "end": 2443,
          "referenceAllele": "C",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "NM_207111.4:c.2251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996994.1:p.Arg751Cys",
        "hgvsWellDefined": "NP_996994.1:p.Arg751Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389902.8:c.2251C>T"
          },
          "RefSeq": {
            "hgvs": "NM_207111.4:c.2251C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374552.3:p.Arg751Cys"
          },
          "RefSeq": {
            "hgvs": "NP_996994.1:p.Arg751Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA111083",
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021698",
      "geneNCBI_id": 54476,
      "geneSymbol": "RNF216",
      "hgvs": [
        "NM_207116.3:c.2080C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996999.1:p.Arg694Cys",
        "hgvsWellDefined": "NP_996999.1:p.Arg694Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701730"
    }
  ],
  "type": "nucleotide"
}