{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020054",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178705[alleleid]",
        "alleleId": 178705,
        "preferredName": "NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180523",
        "RCV": [
          "RCV000157500"
        ],
        "variationId": 180523
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67358661A>C?assembly=hg19",
        "id": "chr15:g.67358661A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67066323A>C?assembly=hg38",
        "id": "chr15:g.67066323A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880213",
        "rs": 730880213
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 67066323,
          "referenceAllele": "A",
          "start": 67066322
        }
      ],
      "hgvs": [
        "NC_000015.10:g.67066323A>C",
        "CM000677.2:g.67066323A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 67358661,
          "referenceAllele": "A",
          "start": 67358660
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67358661A>C",
        "CM000677.1:g.67358661A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 65145715,
          "referenceAllele": "A",
          "start": 65145714
        }
      ],
      "hgvs": [
        "NC_000015.8:g.65145715A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5467,
          "referenceAllele": "A",
          "start": 5466
        }
      ],
      "hgvs": [
        "NG_011990.1:g.5467A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 2379,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.6:c.-110+2379A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.2:n.-110+2379A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "A",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.2:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455540.2:p.Thr57Pro",
        "hgvsWellDefined": "ENSP00000455540.2:p.Thr57Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.9:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Thr57Pro",
        "hgvsWellDefined": "ENSP00000332973.4:p.Thr57Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.169A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.169A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Thr57Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Thr57Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "referenceAllele": "A",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.8:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Thr57Pro",
        "hgvsWellDefined": "ENSP00000332973.4:p.Thr57Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 2379,
          "referenceAllele": "A",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.5:c.-110+2379A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.1:n.-110+2379A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346665",
      "coordinates": [
        {
          "allele": "C",
          "end": 467,
          "referenceAllele": "A",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Thr57Pro",
        "hgvsWellDefined": "NP_005893.1:p.Thr57Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 697,
          "referenceAllele": "A",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.1:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Thr57Pro",
        "hgvsWellDefined": "XP_011519861.1:p.Thr57Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "A",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Thr57Pro",
        "hgvsWellDefined": "XP_011519861.1:p.Thr57Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346665",
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.169A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Thr57Pro",
        "hgvsWellDefined": "NP_005893.1:p.Thr57Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.169A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.169A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Thr57Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Thr57Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}