{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143538616",
  "communityStandardTitle": [
    "NM_001100.4(ACTA1):c.727G= (p.Glu243=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367543051",
        "rs": 367543051
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 229432075,
          "referenceAllele": "C",
          "start": 229432074
        }
      ],
      "hgvs": [
        "NC_000001.11:g.229432075C=",
        "CM000663.2:g.229432075C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 229567822,
          "referenceAllele": "C",
          "start": 229567821
        }
      ],
      "hgvs": [
        "NC_000001.10:g.229567822C=",
        "CM000663.1:g.229567822C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 227634445,
          "referenceAllele": "C",
          "start": 227634444
        }
      ],
      "hgvs": [
        "NC_000001.9:g.227634445C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7022,
          "referenceAllele": "G",
          "start": 7021
        }
      ],
      "hgvs": [
        "NG_006672.1:g.7022G=",
        "LRG_429:g.7022G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000440"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.4:c.727G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.4:p.Glu243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000684723.1:c.592G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508084.1:p.Glu198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 212,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.3:c.480-213G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.3:n.480-213G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366684.7:c.727G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355645.3:p.Glu243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.727G="
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.727G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Glu243="
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Glu243="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064050487",
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.3:c.727G=",
        "LRG_429t1:c.727G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Glu243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064050487",
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.4:c.727G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Glu243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.727G="
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.727G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Glu243="
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Glu243="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}