{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA272434233",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.206+19638C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67378336C>T?assembly=hg19",
        "id": "chr15:g.67378336C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67085998C>T?assembly=hg38",
        "id": "chr15:g.67085998C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28683050",
        "rs": 28683050
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-67378336-C-T?dataset=gnomad_r2_1",
        "id": "15-67378336-C-T",
        "variant": "15:67378336 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-67085998-C-T?dataset=gnomad_r3",
        "id": "15-67085998-C-T",
        "variant": "15:67085998 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-67085998-C-T?dataset=gnomad_r4",
        "id": "15-67085998-C-T",
        "variant": "15:67085998 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 67085998,
          "referenceAllele": "C",
          "start": 67085997
        }
      ],
      "hgvs": [
        "NC_000015.10:g.67085998C>T",
        "CM000677.2:g.67085998C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 67378336,
          "referenceAllele": "C",
          "start": 67378335
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67378336C>T",
        "CM000677.1:g.67378336C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65165390,
          "referenceAllele": "C",
          "start": 65165389
        }
      ],
      "hgvs": [
        "NC_000015.8:g.65165390C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25142,
          "referenceAllele": "C",
          "start": 25141
        }
      ],
      "hgvs": [
        "NG_011990.1:g.25142C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 22054,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 22053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.6:c.-110+22054C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.2:n.-110+22054C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "endIntronDirection": "+",
          "endIntronOffset": 19638,
          "referenceAllele": "C",
          "start": 758,
          "startIntronDirection": "+",
          "startIntronOffset": 19637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.2:c.206+19638C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455540.2:n.206+19638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "endIntronDirection": "+",
          "endIntronOffset": 19638,
          "referenceAllele": "C",
          "start": 759,
          "startIntronDirection": "+",
          "startIntronOffset": 19637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.9:c.206+19638C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:n.206+19638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.206+19638C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.206+19638C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:n.206+19638C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:n.206+19638C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "endIntronDirection": "+",
          "endIntronOffset": 18085,
          "referenceAllele": "C",
          "start": 129,
          "startIntronDirection": "+",
          "startIntronOffset": 18084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000679624.1:c.-110+18085C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505445.1:n.-110+18085C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "endIntronDirection": "+",
          "endIntronOffset": 19638,
          "referenceAllele": "C",
          "start": 516,
          "startIntronDirection": "+",
          "startIntronOffset": 19637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.8:c.206+19638C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:n.206+19638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 22054,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 22053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.5:c.-110+22054C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.1:n.-110+22054C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56,
          "endIntronDirection": "+",
          "endIntronOffset": 7957,
          "referenceAllele": "C",
          "start": 56,
          "startIntronDirection": "+",
          "startIntronOffset": 7956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559937.1:n.56+7957C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "endIntronDirection": "+",
          "endIntronOffset": 19638,
          "referenceAllele": "C",
          "start": 504,
          "startIntronDirection": "+",
          "startIntronOffset": 19637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.206+19638C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:n.206+19638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "endIntronDirection": "+",
          "endIntronOffset": 19638,
          "referenceAllele": "C",
          "start": 734,
          "startIntronDirection": "+",
          "startIntronOffset": 19637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.1:c.206+19638C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:n.206+19638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 19638,
          "referenceAllele": "C",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 19637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.206+19638C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:n.206+19638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "endIntronDirection": "+",
          "endIntronOffset": 19638,
          "referenceAllele": "C",
          "start": 759,
          "startIntronDirection": "+",
          "startIntronOffset": 19637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.206+19638C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:n.206+19638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.206+19638C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.206+19638C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:n.206+19638C>T"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:n.206+19638C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}