{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1226125957",
  "communityStandardTitle": [
    "NM_001100.4(ACTA1):c.243G= (p.Trp81=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886039302",
        "rs": 886039302
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 229432767,
          "referenceAllele": "C",
          "start": 229432766
        }
      ],
      "hgvs": [
        "NC_000001.11:g.229432767C=",
        "CM000663.2:g.229432767C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 229568514,
          "referenceAllele": "C",
          "start": 229568513
        }
      ],
      "hgvs": [
        "NC_000001.10:g.229568514C=",
        "CM000663.1:g.229568514C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 227635137,
          "referenceAllele": "C",
          "start": 227635136
        }
      ],
      "hgvs": [
        "NC_000001.9:g.227635137C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6330,
          "referenceAllele": "G",
          "start": 6329
        }
      ],
      "hgvs": [
        "NG_006672.1:g.6330G=",
        "LRG_429:g.6330G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000440"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "referenceAllele": "G",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.4:c.243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.4:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000684723.1:c.108G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508084.1:p.Trp36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.3:c.243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.3:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366684.7:c.243G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355645.3:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.243G="
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.243G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Trp81="
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Trp81="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064808553",
      "coordinates": [
        {
          "allele": "G",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.3:c.243G=",
        "LRG_429t1:c.243G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064808553",
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.4:c.243G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.243G="
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.243G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Trp81="
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Trp81="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}