{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1926603828",
  "communityStandardTitle": [
    "NM_001613.4(ACTA2):c.445C= (p.Arg149=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434526",
        "rs": 121434526
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 88941794,
          "referenceAllele": "G",
          "start": 88941793
        }
      ],
      "hgvs": [
        "NC_000010.11:g.88941794G=",
        "CM000672.2:g.88941794G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 90701551,
          "referenceAllele": "G",
          "start": 90701550
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90701551G=",
        "CM000672.1:g.90701551G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 90691531,
          "referenceAllele": "G",
          "start": 90691530
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90691531G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54597,
          "referenceAllele": "C",
          "start": 54596
        }
      ],
      "hgvs": [
        "NG_011541.1:g.54597C=",
        "LRG_781:g.54597C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000415557.2:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396730.2:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458159.6:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398239.2:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000480297.6:n.511C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000224784.10:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224784.6:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.445C="
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.445C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Arg149="
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Arg149="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "endIntronDirection": "+",
          "endIntronOffset": 19358,
          "referenceAllele": "G",
          "start": 2212,
          "startIntronDirection": "+",
          "startIntronOffset": 19357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024105",
      "geneNCBI_id": 57559,
      "geneSymbol": "STAMBPL1",
      "hgvs": [
        "ENST00000371927.7:c.1254+19358G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360995.3:n.1254+19358G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000415557.1:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396730.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458159.5:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398239.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458208.5:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402373.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000480297.5:n.485C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.1:c.445C=",
        "LRG_781t2:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076694854",
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.2:c.445C=",
        "LRG_781t1:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "XM_011540016.1:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538318.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.2:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001320855.1:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307784.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076694854",
      "coordinates": [
        {
          "allele": "C",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.3:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076694854",
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.4:c.445C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665061",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.445C="
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.445C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Arg149="
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Arg149="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}