{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13226452",
  "communityStandardTitle": [
    "NC_000010.11:g.88990206A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=712501[alleleid]",
        "alleleId": 712501,
        "preferredName": "NM_001141945.3(ACTA2):c.-24+733T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/779595",
        "RCV": [
          "RCV001515574"
        ],
        "variationId": 779595
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.90749963A>G?assembly=hg19",
        "id": "chr10:g.90749963A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.88990206A>G?assembly=hg38",
        "id": "chr10:g.88990206A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800682",
        "rs": 1800682
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-90749963-A-G?dataset=gnomad_r2_1",
        "id": "10-90749963-A-G",
        "variant": "10:90749963 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-88990206-A-G?dataset=gnomad_r3",
        "id": "10-88990206-A-G",
        "variant": "10:88990206 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-88990206-A-G?dataset=gnomad_r4",
        "id": "10-88990206-A-G",
        "variant": "10:88990206 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 88990206,
          "referenceAllele": "A",
          "start": 88990205
        }
      ],
      "hgvs": [
        "NC_000010.11:g.88990206A>G",
        "CM000672.2:g.88990206A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 90749963,
          "referenceAllele": "A",
          "start": 90749962
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90749963A>G",
        "CM000672.1:g.90749963A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 90739943,
          "referenceAllele": "A",
          "start": 90739942
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90739943A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4676,
          "referenceAllele": "A",
          "start": 4675
        }
      ],
      "hgvs": [
        "NG_009089.2:g.4676A>G",
        "LRG_134:g.4676A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6185,
          "referenceAllele": "T",
          "start": 6184
        }
      ],
      "hgvs": [
        "NG_011541.1:g.6185T>C",
        "LRG_781:g.6185T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "T",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000415557.2:c.-24+733T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396730.2:n.-24+733T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "endIntronDirection": "+",
          "endIntronOffset": 816,
          "referenceAllele": "T",
          "start": 311,
          "startIntronDirection": "+",
          "startIntronOffset": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458159.6:c.-24+816T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398239.2:n.-24+816T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3663,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 3663,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "ENST00000696723.1:n.3663+627A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 1147,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "ENST00000696992.1:n.1147+627A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "A",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "ENST00000688239.1:n.372A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "ENST00000690268.1:c.111+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509810.1:n.111+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "T",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000415557.1:c.-24+733T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396730.1:n.-24+733T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "endIntronDirection": "+",
          "endIntronOffset": 816,
          "referenceAllele": "T",
          "start": 267,
          "startIntronDirection": "+",
          "startIntronOffset": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458159.5:c.-24+816T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398239.1:n.-24+816T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "T",
          "start": 452,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458208.5:c.-24+733T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402373.1:n.-24+733T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "T",
          "start": 452,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.1:c.-24+733T>C",
        "LRG_781t2:c.-24+733T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:n.-24+733T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3658,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 3658,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_006717819.2:c.111+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717882.1:n.111+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_011539764.1:c.192+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538066.1:n.192+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_011539765.1:c.192+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538067.1:n.192+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_011539766.1:c.111+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538068.1:n.111+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78,
          "endIntronDirection": "+",
          "endIntronOffset": 816,
          "referenceAllele": "T",
          "start": 78,
          "startIntronDirection": "+",
          "startIntronOffset": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "XM_011540016.1:c.-24+816T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538318.1:n.-24+816T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XR_945732.1:n.207+627A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XR_945733.1:n.207+627A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "T",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.2:c.-24+733T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:n.-24+733T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "endIntronDirection": "+",
          "endIntronOffset": 816,
          "referenceAllele": "T",
          "start": 376,
          "startIntronDirection": "+",
          "startIntronOffset": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001320855.1:c.-24+816T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307784.1:n.-24+816T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5030,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 5030,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_006717819.3:c.111+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717882.1:n.111+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_011539764.2:c.192+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538066.1:n.192+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_011539765.2:c.192+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538067.1:n.192+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XM_011539766.2:c.111+627A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538068.1:n.111+627A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XR_945732.3:n.207+627A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 627,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011920",
      "geneNCBI_id": 355,
      "geneSymbol": "FAS",
      "hgvs": [
        "XR_945733.2:n.207+627A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614149"
    }
  ],
  "type": "nucleotide"
}