{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6577554",
  "communityStandardTitle": [
    "NM_002282.3(KRT83):c.745G>C (p.Glu249Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415350[alleleid]",
        "alleleId": 415350,
        "preferredName": "NM_002282.3(KRT83):c.745G>C (p.Glu249Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426884",
        "RCV": [
          "RCV000489546",
          "RCV004023258"
        ],
        "variationId": 426884
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-52711470-C-G",
        "id": "12-52711470-C-G",
        "variant": "12:52711470 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52711470C>G?assembly=hg19",
        "id": "chr12:g.52711470C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.52317686C>G?assembly=hg38",
        "id": "chr12:g.52317686C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/553491257",
        "rs": 553491257
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52711470-C-G?dataset=gnomad_r2_1",
        "id": "12-52711470-C-G",
        "variant": "12:52711470 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52317686-C-G?dataset=gnomad_r3",
        "id": "12-52317686-C-G",
        "variant": "12:52317686 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-52317686-C-G?dataset=gnomad_r4",
        "id": "12-52317686-C-G",
        "variant": "12:52317686 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52317686,
          "referenceAllele": "C",
          "start": 52317685
        }
      ],
      "hgvs": [
        "NC_000012.12:g.52317686C>G",
        "CM000674.2:g.52317686C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 52711470,
          "referenceAllele": "C",
          "start": 52711469
        }
      ],
      "hgvs": [
        "NC_000012.11:g.52711470C>G",
        "CM000674.1:g.52711470C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 50997737,
          "referenceAllele": "C",
          "start": 50997736
        }
      ],
      "hgvs": [
        "NC_000012.10:g.50997737C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8713,
          "referenceAllele": "G",
          "start": 8712
        }
      ],
      "hgvs": [
        "NG_008352.1:g.8713G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001048"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006460",
      "geneNCBI_id": 3889,
      "geneSymbol": "KRT83",
      "hgvs": [
        "ENST00000293670.3:c.745G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293670.3:p.Glu249Gln",
        "hgvsWellDefined": "ENSP00000293670.3:p.Glu249Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253896",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293670.3:c.745G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002282.3:c.745G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293670.3:p.Glu249Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002273.3:p.Glu249Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645424074",
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006460",
      "geneNCBI_id": 3889,
      "geneSymbol": "KRT83",
      "hgvs": [
        "NM_002282.3:c.745G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002273.3:p.Glu249Gln",
        "hgvsWellDefined": "NP_002273.3:p.Glu249Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027602",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293670.3:c.745G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002282.3:c.745G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293670.3:p.Glu249Gln"
          },
          "RefSeq": {
            "hgvs": "NP_002273.3:p.Glu249Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}