{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1757727673",
  "communityStandardTitle": [
    "NM_014629.4(ARHGEF10):c.995C= (p.Thr332=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940281",
        "rs": 28940281
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 1882669,
          "referenceAllele": "C",
          "start": 1882668
        }
      ],
      "hgvs": [
        "NC_000008.11:g.1882669C=",
        "CM000670.2:g.1882669C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 1830835,
          "referenceAllele": "C",
          "start": 1830834
        }
      ],
      "hgvs": [
        "NC_000008.10:g.1830835C=",
        "CM000670.1:g.1830835C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 1818242,
          "referenceAllele": "C",
          "start": 1818241
        }
      ],
      "hgvs": [
        "NC_000008.9:g.1818242C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 63687,
          "referenceAllele": "C",
          "start": 63686
        }
      ],
      "hgvs": [
        "NG_008480.1:g.63687C=",
        "LRG_234:g.63687C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000349830.8:c.995C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340297.3:p.Thr332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349830.8:c.995C="
          },
          "RefSeq": {
            "hgvs": "NM_014629.4:c.995C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340297.3:p.Thr332="
          },
          "RefSeq": {
            "hgvs": "NP_055444.2:p.Thr332="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "hgvs": [
        "ENST00000635773.1:c.1523C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
        }
      ],
      "hgvs": [
        "ENST00000635855.1:c.*949C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489726.1:n.*949C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000349830.7:c.995C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340297.3:p.Thr332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000398560.2:c.263C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381568.2:p.Thr88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "C",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000398564.5:c.1070C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381571.1:p.Thr357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000518288.5:c.1070C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431012.1:p.Thr357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000520359.5:c.881C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427909.1:p.Thr294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000520972.5:n.691C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14,
          "referenceAllele": "C",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000522435.5:c.14C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427768.1:p.Thr5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "ENST00000523711.5:n.719C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "NM_001308152.1:c.881C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295081.1:p.Thr294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "NM_001308153.1:c.1070C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295082.1:p.Thr357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074691800",
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "NM_014629.2:c.995C=",
        "LRG_234t1:c.995C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055444.2:p.Thr332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074691800",
      "coordinates": [
        {
          "allele": "C",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "NM_014629.3:c.995C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055444.2:p.Thr332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_005266041.2:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266098.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_011534766.1:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533068.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_011534767.1:c.878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533069.1:p.Thr293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_011534768.1:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533070.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_011534769.1:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533071.1:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_011534770.1:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533072.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_005266041.4:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266098.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_011534767.2:c.878C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533069.1:p.Thr293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_011534770.2:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533072.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_017014003.1:c.1070C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869492.1:p.Thr357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_024447334.1:c.998C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303102.1:p.Thr333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "C",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "XM_024447335.1:c.1082C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303103.1:p.Thr361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580920"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074691800",
      "coordinates": [
        {
          "allele": "C",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "NM_014629.4:c.995C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055444.2:p.Thr332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668422",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349830.8:c.995C="
          },
          "RefSeq": {
            "hgvs": "NM_014629.4:c.995C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340297.3:p.Thr332="
          },
          "RefSeq": {
            "hgvs": "NP_055444.2:p.Thr332="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "NM_001308152.2:c.881C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295081.1:p.Thr294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014103",
      "geneNCBI_id": 9639,
      "geneSymbol": "ARHGEF10",
      "hgvs": [
        "NM_001308153.2:c.1070C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295082.1:p.Thr357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683945"
    }
  ],
  "type": "nucleotide"
}