{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA007012",
  "communityStandardTitle": [
    "NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197394[alleleid]",
        "alleleId": 197394,
        "preferredName": "NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199674",
        "RCV": [
          "RCV000181026",
          "RCV000473240",
          "RCV002390447"
        ],
        "variationId": 199674
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.90699309C>T?assembly=hg19",
        "id": "chr10:g.90699309C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.88939552C>T?assembly=hg38",
        "id": "chr10:g.88939552C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728027",
        "rs": 794728027
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 88939552,
          "referenceAllele": "C",
          "start": 88939551
        }
      ],
      "hgvs": [
        "NC_000010.11:g.88939552C>T",
        "CM000672.2:g.88939552C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90699309,
          "referenceAllele": "C",
          "start": 90699308
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90699309C>T",
        "CM000672.1:g.90699309C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90689289,
          "referenceAllele": "C",
          "start": 90689288
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90689289C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56839,
          "referenceAllele": "G",
          "start": 56838
        }
      ],
      "hgvs": [
        "NG_011541.1:g.56839G>A",
        "LRG_781:g.56839G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000415557.2:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396730.2:p.Glu255Lys",
        "hgvsWellDefined": "ENSP00000396730.2:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458159.6:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398239.2:p.Glu255Lys",
        "hgvsWellDefined": "ENSP00000398239.2:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000480297.6:n.2359G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000224784.10:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224784.6:p.Glu255Lys",
        "hgvsWellDefined": "ENSP00000224784.6:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.763G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.763G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Glu255Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Glu255Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "endIntronDirection": "+",
          "endIntronOffset": 17116,
          "referenceAllele": "C",
          "start": 2212,
          "startIntronDirection": "+",
          "startIntronOffset": 17115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024105",
      "geneNCBI_id": 57559,
      "geneSymbol": "STAMBPL1",
      "hgvs": [
        "ENST00000371927.7:c.1254+17116C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360995.3:n.1254+17116C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1238,
          "referenceAllele": "G",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "ENST00000458208.5:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402373.1:p.Glu255Lys",
        "hgvsWellDefined": "ENSP00000402373.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303654",
      "coordinates": [
        {
          "allele": "A",
          "end": 1238,
          "referenceAllele": "G",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.1:c.763G>A",
        "LRG_781t2:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Glu255Lys",
        "hgvsWellDefined": "NP_001135417.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303655",
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.2:c.763G>A",
        "LRG_781t1:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Glu255Lys",
        "hgvsWellDefined": "NP_001604.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN045169",
      "geneNCBI_id": 100132116,
      "geneSymbol": "ACTA2-AS1",
      "hgvs": [
        "NR_125373.1:n.1621C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "XM_011540016.1:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538318.1:p.Glu255Lys",
        "hgvsWellDefined": "XP_011538318.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303654",
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001141945.2:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135417.1:p.Glu255Lys",
        "hgvsWellDefined": "NP_001135417.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827058125",
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001320855.1:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307784.1:p.Glu255Lys",
        "hgvsWellDefined": "NP_001307784.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303655",
      "coordinates": [
        {
          "allele": "A",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.3:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Glu255Lys",
        "hgvsWellDefined": "NP_001604.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303655",
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NM_001613.4:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001604.1:p.Glu255Lys",
        "hgvsWellDefined": "NP_001604.1:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665061",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224784.10:c.763G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001613.4:c.763G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224784.6:p.Glu255Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001604.1:p.Glu255Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}