{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2184410337",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.277C= (p.Arg93=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768713596",
        "rs": 768713596
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 67164965,
          "referenceAllele": "C",
          "start": 67164964
        }
      ],
      "hgvs": [
        "NC_000015.10:g.67164965C=",
        "CM000677.2:g.67164965C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 67457303,
          "referenceAllele": "C",
          "start": 67457302
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67457303C=",
        "CM000677.1:g.67457303C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 65244357,
          "referenceAllele": "C",
          "start": 65244356
        }
      ],
      "hgvs": [
        "NC_000015.8:g.65244357C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104109,
          "referenceAllele": "C",
          "start": 104108
        }
      ],
      "hgvs": [
        "NG_011990.1:g.104109C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558739.2:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453684.2:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.6:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.2:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.2:c.277C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455540.2:p.Arg93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.9:c.277C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Arg93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.277C="
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.277C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Arg93="
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Arg93="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000679624.1:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505445.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000681239.1:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505641.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.8:c.277C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Arg93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000439724.7:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401133.3:p.Arg49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000540846.6:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437757.2:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558739.1:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453684.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558894.5:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458060.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559092.1:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453788.1:p.Gly74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.5:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559937.1:n.127C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560175.5:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455095.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.1:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "referenceAllele": "C",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.1:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Arg49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082145257",
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.277C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Arg93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "referenceAllele": "C",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.1:c.277C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Arg93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521560.1:c.130C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519862.1:p.Arg44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.277C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Arg93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082145257",
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.277C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Arg93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.277C="
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.277C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Arg93="
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Arg93="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.2:c.-39C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:n.-39C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "referenceAllele": "C",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.2:c.145C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Arg49="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    }
  ],
  "type": "nucleotide"
}