{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3050533337",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.1155-3C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3735415[alleleid]",
        "alleleId": 3735415,
        "preferredName": "NM_005902.4(SMAD3):c.1155-3C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3602722",
        "RCV": [
          "RCV005055333"
        ],
        "variationId": 3602722
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 67190410,
          "referenceAllele": "C",
          "start": 67190409
        }
      ],
      "hgvs": [
        "NC_000015.10:g.67190410C>G",
        "CM000677.2:g.67190410C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 67482748,
          "referenceAllele": "C",
          "start": 67482747
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67482748C>G",
        "CM000677.1:g.67482748C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 65269802,
          "referenceAllele": "C",
          "start": 65269801
        }
      ],
      "hgvs": [
        "NC_000015.8:g.65269802C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 129554,
          "referenceAllele": "C",
          "start": 129553
        }
      ],
      "hgvs": [
        "NG_011990.1:g.129554C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558428.6:c.570-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454165.2:n.570-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1236,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1236,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558739.2:c.840-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453684.2:n.840-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 795,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558827.2:c.570-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452767.2:n.570-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1130,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.6:c.840-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.2:n.840-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1817,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.2:c.1266-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455540.2:n.1266-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1707,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1707,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.9:c.1155-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:n.1155-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.1155-3C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.1155-3C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:n.1155-3C>G"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:n.1155-3C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1077,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1077,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000679624.1:c.840-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505445.1:n.840-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 857,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000680689.1:n.858-3C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1105,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000681239.1:c.840-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505641.1:n.840-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1464,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.8:c.1155-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:n.1155-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1048,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000439724.7:c.1023-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401133.3:n.1023-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000537194.6:c.570-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445348.2:n.570-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1217,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000540846.6:c.840-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437757.2:n.840-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 848,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558763.1:n.849-3C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 2462,
          "referenceAllele": "C",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560402.1:n.283-2463C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 346,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.1:c.347-3C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1217,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.1:c.840-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:n.840-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1028,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.1:c.1023-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:n.1023-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 661,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.1:c.570-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:n.570-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1452,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1452,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.1155-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:n.1155-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1550,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.1:c.1023-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:n.1023-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1391,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521560.1:c.1008-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519862.1:n.1008-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1064,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.1023-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:n.1023-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1707,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1707,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.1155-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:n.1155-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.1155-3C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.1155-3C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:n.1155-3C>G"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:n.1155-3C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1191,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.2:c.840-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:n.840-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1028,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.2:c.1023-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:n.1023-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 655,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 655,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.2:c.570-3C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:n.570-3C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712753"
    }
  ],
  "type": "nucleotide"
}