{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402465393",
  "communityStandardTitle": [
    "NM_005359.6(SMAD4):c.1447A>C (p.Ser483Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.48603146A>C?assembly=hg19",
        "id": "chr18:g.48603146A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.51076776A>C?assembly=hg38",
        "id": "chr18:g.51076776A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 51076776,
          "referenceAllele": "A",
          "start": 51076775
        }
      ],
      "hgvs": [
        "NC_000018.10:g.51076776A>C",
        "CM000680.2:g.51076776A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 48603146,
          "referenceAllele": "A",
          "start": 48603145
        }
      ],
      "hgvs": [
        "NC_000018.9:g.48603146A>C",
        "CM000680.1:g.48603146A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 46857144,
          "referenceAllele": "A",
          "start": 46857143
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46857144A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113737,
          "referenceAllele": "A",
          "start": 113736
        }
      ],
      "hgvs": [
        "NG_013013.2:g.113737A>C",
        "LRG_318:g.113737A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002660"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588860.6:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465878.2:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000465878.2:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1751,
          "referenceAllele": "A",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589076.6:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466934.2:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000466934.2:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2154,
          "referenceAllele": "A",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.2:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.2:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000465874.2:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1570,
          "referenceAllele": "A",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.2:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.2:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000464772.2:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "referenceAllele": "A",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.2:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.2:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000466118.2:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1574,
          "referenceAllele": "A",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.2:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478613.2:p.Lys483Gln",
        "hgvsWellDefined": "ENSP00000478613.2:p.Lys483Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2819,
          "referenceAllele": "A",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000684953.1:n.2819A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1898,
          "referenceAllele": "A",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685090.1:n.1898A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685232.1:n.1555A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000688574.1:n.1555A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2929,
          "referenceAllele": "A",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000691124.1:n.2929A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.8:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000341551.3:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.1447A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.1447A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Ser483Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Ser483Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.7:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000341551.3:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1705,
          "referenceAllele": "A",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000398417.6:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381452.1:p.Ser483Arg",
        "hgvsWellDefined": "ENSP00000381452.1:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "referenceAllele": "A",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588745.5:c.1159A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464901.1:p.Ser387Arg",
        "hgvsWellDefined": "ENSP00000464901.1:p.Ser387Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "referenceAllele": "A",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590499.1:n.505A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3448,
          "referenceAllele": "A",
          "start": 3447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000591126.5:n.3448A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "A",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592186.5:c.1094A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468611.1:n.1094A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "referenceAllele": "A",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.1:c.214A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.1:p.Ser72Arg",
        "hgvsWellDefined": "ENSP00000466118.1:p.Ser72Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.1:c.647A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658807941",
      "coordinates": [
        {
          "allele": "C",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.1447A>C",
        "LRG_318t1:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Ser483Arg",
        "hgvsWellDefined": "NP_005350.1:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658807941",
      "coordinates": [
        {
          "allele": "C",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.1447A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Ser483Arg",
        "hgvsWellDefined": "NP_005350.1:p.Ser483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.1447A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.1447A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Ser483Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Ser483Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}