{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2022092580",
  "communityStandardTitle": [
    "NM_006940.6(SOX5):c.1831C= (p.Arg611=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869312867",
        "rs": 869312867
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 23536610,
          "referenceAllele": "G",
          "start": 23536609
        }
      ],
      "hgvs": [
        "NC_000012.12:g.23536610G=",
        "CM000674.2:g.23536610G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 23689544,
          "referenceAllele": "G",
          "start": 23689543
        }
      ],
      "hgvs": [
        "NC_000012.11:g.23689544G=",
        "CM000674.1:g.23689544G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 23580811,
          "referenceAllele": "G",
          "start": 23580810
        }
      ],
      "hgvs": [
        "NC_000012.10:g.23580811G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1030837,
          "referenceAllele": "C",
          "start": 1030836
        }
      ],
      "hgvs": [
        "NG_029612.1:g.1030837C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1030837,
          "referenceAllele": "C",
          "start": 1030836
        }
      ],
      "hgvs": [
        "NG_029612.2:g.1030837C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000704296.1:c.583C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515820.1:p.Arg195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000704297.1:c.*500C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515821.1:n.*500C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "C",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000704298.1:c.*480C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515822.1:n.*480C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000704299.1:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515823.1:p.Arg563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000451604.7:c.1831C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398273.2:p.Arg611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000451604.7:c.1831C="
          },
          "RefSeq": {
            "hgvs": "NM_006940.6:c.1831C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398273.2:p.Arg611="
          },
          "RefSeq": {
            "hgvs": "NP_008871.3:p.Arg611="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000646273.1:c.1468C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493866.1:p.Arg490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000367206.7:c.*162C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356174.3:n.*162C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266263"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000381381.6:c.1468C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370788.2:p.Arg490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000396007.6:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379328.2:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000451604.6:c.1831C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398273.2:p.Arg611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000537393.5:c.1726C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439832.1:p.Arg576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000541536.5:c.1468C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441973.1:p.Arg490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000545921.5:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443520.1:p.Arg601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "ENST00000546136.5:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437487.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001261414.1:c.1468C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248343.1:p.Arg490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001261415.1:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248344.1:p.Arg601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079715311",
      "coordinates": [
        {
          "allele": "C",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_006940.4:c.1831C="
      ],
      "proteinEffect": {
        "hgvs": "NP_008871.3:p.Arg611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_152989.3:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "NP_694534.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_178010.2:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_821078.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "C",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_006719149.2:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719212.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520831.1:c.1726C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519133.1:p.Arg576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520832.1:c.1834C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519134.1:p.Arg612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520833.1:c.1804C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519135.1:p.Arg602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520834.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519136.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2310,
          "referenceAllele": "C",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520835.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519137.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2453,
          "referenceAllele": "C",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520836.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519138.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520837.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519139.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1798,
          "referenceAllele": "C",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520838.1:c.1729C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519140.1:p.Arg577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2344,
          "referenceAllele": "C",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520839.1:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519141.1:p.Arg563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520840.1:c.997C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519142.1:p.Arg333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520841.1:c.997C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519143.1:p.Arg333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520842.1:c.787C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519144.1:p.Arg263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520843.1:c.997C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519145.1:p.Arg333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520844.1:c.583C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519146.1:p.Arg195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520845.1:c.583C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519147.1:p.Arg195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520846.1:c.583C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519148.1:p.Arg195="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2058,
          "referenceAllele": "C",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001261414.2:c.1468C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248343.1:p.Arg490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001261415.2:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248344.1:p.Arg601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1828,
          "referenceAllele": "C",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001330785.1:c.1726C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317714.1:p.Arg576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079715311",
      "coordinates": [
        {
          "allele": "C",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_006940.5:c.1831C="
      ],
      "proteinEffect": {
        "hgvs": "NP_008871.3:p.Arg611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2307,
          "referenceAllele": "C",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_152989.4:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "NP_694534.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_178010.3:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_821078.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526822"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520832.2:c.1834C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519134.1:p.Arg612="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2236,
          "referenceAllele": "C",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520833.2:c.1804C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519135.1:p.Arg602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520834.2:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519136.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2421,
          "referenceAllele": "C",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520835.2:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519137.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520837.2:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519139.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1798,
          "referenceAllele": "C",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520838.2:c.1729C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519140.1:p.Arg577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_011520842.2:c.787C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519144.1:p.Arg263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2250,
          "referenceAllele": "C",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019888.1:c.1921C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875377.1:p.Arg641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2246,
          "referenceAllele": "C",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019889.1:c.1918C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875378.1:p.Arg640="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019890.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875379.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2243,
          "referenceAllele": "C",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019891.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875380.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2464,
          "referenceAllele": "C",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019892.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875381.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2324,
          "referenceAllele": "C",
          "start": 2323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019893.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875382.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4254,
          "referenceAllele": "C",
          "start": 4253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019894.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875383.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1821,
          "referenceAllele": "C",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019895.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875384.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2382,
          "referenceAllele": "C",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019896.1:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875385.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019897.1:c.1690C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875386.1:p.Arg564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2277,
          "referenceAllele": "C",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019898.1:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875387.1:p.Arg563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1989,
          "referenceAllele": "C",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019899.1:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875388.1:p.Arg563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019900.1:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875389.1:p.Arg563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7059,
          "referenceAllele": "C",
          "start": 7058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_017019901.1:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016875390.1:p.Arg563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2677,
          "referenceAllele": "C",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449150.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304918.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7746,
          "referenceAllele": "C",
          "start": 7745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449151.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304919.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2485,
          "referenceAllele": "C",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449152.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304920.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2640,
          "referenceAllele": "C",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449153.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304921.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2399,
          "referenceAllele": "C",
          "start": 2398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449154.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304922.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582712"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "C",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449155.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304923.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449157.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304925.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2409,
          "referenceAllele": "C",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449158.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304926.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2398,
          "referenceAllele": "C",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449159.1:c.1795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304927.1:p.Arg599="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2410,
          "referenceAllele": "C",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449160.1:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304928.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449161.1:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304929.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449163.1:c.1690C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304931.1:p.Arg564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7822,
          "referenceAllele": "C",
          "start": 7821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449164.1:c.1690C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304932.1:p.Arg564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2309,
          "referenceAllele": "C",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "XM_024449165.1:c.1690C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304933.1:p.Arg564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079715311",
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_006940.6:c.1831C="
      ],
      "proteinEffect": {
        "hgvs": "NP_008871.3:p.Arg611="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000451604.7:c.1831C="
          },
          "RefSeq": {
            "hgvs": "NM_006940.6:c.1831C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398273.2:p.Arg611="
          },
          "RefSeq": {
            "hgvs": "NP_008871.3:p.Arg611="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1959,
          "referenceAllele": "C",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001261414.3:c.1468C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248343.1:p.Arg490="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001330785.2:c.1726C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317714.1:p.Arg576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2208,
          "referenceAllele": "C",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_152989.5:c.1792C="
      ],
      "proteinEffect": {
        "hgvs": "NP_694534.1:p.Arg598="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_178010.4:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_821078.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011201",
      "geneNCBI_id": 6660,
      "geneSymbol": "SOX5",
      "hgvs": [
        "NM_001261415.3:c.1801C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001248344.1:p.Arg601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715013"
    }
  ],
  "type": "nucleotide"
}