{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266561",
  "communityStandardTitle": [
    "NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN505970"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239854[alleleid]",
        "alleleId": 239854,
        "preferredName": "NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/238621",
        "RCV": [
          "RCV000231891",
          "RCV000238760"
        ],
        "variationId": 238621
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-54516613-G-A",
        "id": "5-54516613-G-A",
        "variant": "5:54516613 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.54516613G>A?assembly=hg19",
        "id": "chr5:g.54516613G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.55220785G>A?assembly=hg38",
        "id": "chr5:g.55220785G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199825346",
        "rs": 199825346
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-54516613-G-A?dataset=gnomad_r2_1",
        "id": "5-54516613-G-A",
        "variant": "5:54516613 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-55220785-G-A?dataset=gnomad_r3",
        "id": "5-55220785-G-A",
        "variant": "5:55220785 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-55220785-G-A?dataset=gnomad_r4",
        "id": "5-55220785-G-A",
        "variant": "5:55220785 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 55220785,
          "referenceAllele": "G",
          "start": 55220784
        }
      ],
      "hgvs": [
        "NC_000005.10:g.55220785G>A",
        "CM000667.2:g.55220785G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 54516613,
          "referenceAllele": "G",
          "start": 54516612
        }
      ],
      "hgvs": [
        "NC_000005.9:g.54516613G>A",
        "CM000667.1:g.54516613G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 54552370,
          "referenceAllele": "G",
          "start": 54552369
        }
      ],
      "hgvs": [
        "NC_000005.8:g.54552370G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11531,
          "referenceAllele": "C",
          "start": 11530
        }
      ],
      "hgvs": [
        "NG_051620.1:g.11531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617024"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040050",
      "geneNCBI_id": 345643,
      "geneSymbol": "MCIDAS",
      "hgvs": [
        "ENST00000513312.3:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426359.1:p.Arg247Trp",
        "hgvsWellDefined": "ENSP00000426359.1:p.Arg247Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758319",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513312.3:c.739C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001190787.3:c.739C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426359.1:p.Arg247Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001177716.1:p.Arg247Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040050",
      "geneNCBI_id": 345643,
      "geneSymbol": "MCIDAS",
      "hgvs": [
        "ENST00000513312.1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426359.1:p.Arg247Trp",
        "hgvsWellDefined": "ENSP00000426359.1:p.Arg247Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040050",
      "geneNCBI_id": 345643,
      "geneSymbol": "MCIDAS",
      "hgvs": [
        "ENST00000513468.5:c.*203C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422165.1:n.*203C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459299",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040050",
      "geneNCBI_id": 345643,
      "geneSymbol": "MCIDAS",
      "hgvs": [
        "NM_001190787.1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177716.1:p.Arg247Trp",
        "hgvsWellDefined": "NP_001177716.1:p.Arg247Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040050",
      "geneNCBI_id": 345643,
      "geneSymbol": "MCIDAS",
      "hgvs": [
        "XM_017009439.2:c.346C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864928.1:p.Arg116Trp",
        "hgvsWellDefined": "XP_016864928.1:p.Arg116Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459299",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040050",
      "geneNCBI_id": 345643,
      "geneSymbol": "MCIDAS",
      "hgvs": [
        "NM_001190787.3:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177716.1:p.Arg247Trp",
        "hgvsWellDefined": "NP_001177716.1:p.Arg247Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513312.3:c.739C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001190787.3:c.739C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426359.1:p.Arg247Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001177716.1:p.Arg247Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}