{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2184369125",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.82G= (p.Glu28=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223750",
        "rs": 863223750
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 67066236,
          "referenceAllele": "G",
          "start": 67066235
        }
      ],
      "hgvs": [
        "NC_000015.10:g.67066236G=",
        "CM000677.2:g.67066236G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 67358574,
          "referenceAllele": "G",
          "start": 67358573
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67358574G=",
        "CM000677.1:g.67358574G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 65145628,
          "referenceAllele": "G",
          "start": 65145627
        }
      ],
      "hgvs": [
        "NC_000015.8:g.65145628G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5380,
          "referenceAllele": "G",
          "start": 5379
        }
      ],
      "hgvs": [
        "NG_011990.1:g.5380G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 2292,
          "referenceAllele": "G",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.6:c.-110+2292G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.2:n.-110+2292G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.2:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455540.2:p.Glu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.9:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Glu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.82G="
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.82G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Glu28="
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Glu28="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.8:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Glu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 2292,
          "referenceAllele": "G",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.5:c.-110+2292G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.1:n.-110+2292G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082214024",
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Glu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.1:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Glu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Glu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082214024",
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.82G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Glu28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.82G="
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.82G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Glu28="
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Glu28="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}