{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1926601764",
  "communityStandardTitle": [
    "NM_001613.4(ACTA2):c.720G= (p.Lys240=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727502878",
        "rs": 727502878
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 88939595,
          "referenceAllele": "C",
          "start": 88939594
        }
      ],
      "hgvs": [
        "NC_000010.11:g.88939595C=",
        "CM000672.2:g.88939595C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 90699352,
          "referenceAllele": "C",
          "start": 90699351
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90699352C=",
        "CM000672.1:g.90699352C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 90689332,
          "referenceAllele": "C",
          "start": 90689331
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90689332C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56796,
          "referenceAllele": "G",
          "start": 56795
        }
      ],
      "hgvs": [
        "NG_011541.1:g.56796G=",
        "LRG_781:g.56796G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000415557.2:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396730.2:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458159.6:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398239.2:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000480297.6:n.2316G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000224784.10:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224784.6:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.720G="
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.720G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Lys240="
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Lys240="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2212,
          "endIntronDirection": "+",
          "endIntronOffset": 17159,
          "referenceAllele": "C",
          "start": 2212,
          "startIntronDirection": "+",
          "startIntronOffset": 17158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024105",
      "geneNCBI_id": 57559,
      "geneSymbol": "STAMBPL1",
      "hgvs": [
        "ENST00000371927.7:c.1254+17159C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360995.3:n.1254+17159C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458208.5:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402373.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.1:c.720G=",
        "LRG_781t2:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076804356",
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "G",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.2:c.720G=",
        "LRG_781t1:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN045169",
      "geneNCBI_id": 100132116,
      "geneSymbol": "ACTA2-AS1",
      "hgvs": [
        "NR_125373.1:n.1664C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "XM_011540016.1:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538318.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.2:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001320855.1:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307784.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076804356",
      "coordinates": [
        {
          "allele": "G",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.3:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076804356",
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.4:c.720G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Lys240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665061",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.720G="
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.720G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Lys240="
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Lys240="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}