{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6239307",
  "communityStandardTitle": [
    "NM_014679.5(CEP57):c.39C>G (p.His13Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=839173[alleleid]",
        "alleleId": 839173,
        "preferredName": "NM_014679.5(CEP57):c.39C>G (p.His13Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836256",
        "RCV": [
          "RCV001037335"
        ],
        "variationId": 836256
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-95523901-C-G",
        "id": "11-95523901-C-G",
        "variant": "11:95523901 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95523901C>G?assembly=hg19",
        "id": "chr11:g.95523901C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95790737C>G?assembly=hg38",
        "id": "chr11:g.95790737C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/531068389",
        "rs": 531068389
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95523901-C-G?dataset=gnomad_r2_1",
        "id": "11-95523901-C-G",
        "variant": "11:95523901 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95790737-C-G?dataset=gnomad_r3",
        "id": "11-95790737-C-G",
        "variant": "11:95790737 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95790737-C-G?dataset=gnomad_r4",
        "id": "11-95790737-C-G",
        "variant": "11:95790737 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 95790737,
          "referenceAllele": "C",
          "start": 95790736
        }
      ],
      "hgvs": [
        "NC_000011.10:g.95790737C>G",
        "CM000673.2:g.95790737C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 95523901,
          "referenceAllele": "C",
          "start": 95523900
        }
      ],
      "hgvs": [
        "NC_000011.9:g.95523901C>G",
        "CM000673.1:g.95523901C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 95163549,
          "referenceAllele": "C",
          "start": 95163548
        }
      ],
      "hgvs": [
        "NC_000011.8:g.95163549C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5277,
          "referenceAllele": "C",
          "start": 5276
        }
      ],
      "hgvs": [
        "NG_029829.1:g.5277C>G",
        "LRG_526:g.5277C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325542.10:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317902.5:p.His13Gln",
        "hgvsWellDefined": "ENSP00000317902.5:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325542.10:c.39C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014679.5:c.39C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317902.5:p.His13Gln"
          },
          "RefSeq": {
            "hgvs": "NP_055494.2:p.His13Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325486.9:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317487.5:p.His13Gln",
        "hgvsWellDefined": "ENSP00000317487.5:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325542.9:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317902.5:p.His13Gln",
        "hgvsWellDefined": "ENSP00000317902.5:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000535497.1:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442481.1:p.His13Gln",
        "hgvsWellDefined": "ENSP00000442481.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 595,
          "referenceAllele": "C",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000537677.5:c.-37+595C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441392.1:n.-37+595C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000538095.1:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443866.1:p.His13Gln",
        "hgvsWellDefined": "ENSP00000443866.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79,
          "referenceAllele": "C",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000538658.5:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445706.1:p.His13Gln",
        "hgvsWellDefined": "ENSP00000445706.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 222,
          "referenceAllele": "C",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000539855.5:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437422.1:p.His13Gln",
        "hgvsWellDefined": "ENSP00000437422.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000540830.5:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440996.1:p.His13Gln",
        "hgvsWellDefined": "ENSP00000440996.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000541365.5:c.-38C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445821.1:n.-38C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000544522.5:c.-33C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438065.1:n.-33C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.1:c.-33C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:n.-33C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826337501",
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.1:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:p.His13Gln",
        "hgvsWellDefined": "NP_001230706.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139737814",
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_014679.4:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055494.2:p.His13Gln",
        "hgvsWellDefined": "NP_055494.2:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718945.2:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719008.1:p.His13Gln",
        "hgvsWellDefined": "XP_006719008.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718946.2:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719009.1:p.His13Gln",
        "hgvsWellDefined": "XP_006719009.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.1:c.-356C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:n.-356C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718945.3:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719008.1:p.His13Gln",
        "hgvsWellDefined": "XP_006719008.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718946.3:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719009.1:p.His13Gln",
        "hgvsWellDefined": "XP_006719009.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018593.2:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874082.1:p.His13Gln",
        "hgvsWellDefined": "XP_016874082.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018594.2:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874083.1:p.His13Gln",
        "hgvsWellDefined": "XP_016874083.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XR_001748050.2:n.267C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139737814",
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_014679.5:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055494.2:p.His13Gln",
        "hgvsWellDefined": "NP_055494.2:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325542.10:c.39C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014679.5:c.39C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317902.5:p.His13Gln"
          },
          "RefSeq": {
            "hgvs": "NP_055494.2:p.His13Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.2:c.-33C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:n.-33C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826337501",
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.2:c.39C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:p.His13Gln",
        "hgvsWellDefined": "NP_001230706.1:p.His13Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.2:c.-356C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:n.-356C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720762"
    }
  ],
  "type": "nucleotide"
}