{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363270097",
  "communityStandardTitle": [
    "NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=623665[alleleid]",
        "alleleId": 623665,
        "preferredName": "NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635852",
        "RCV": [
          "RCV000787354",
          "RCV001261717"
        ],
        "variationId": 635852
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.21595099G>C?assembly=hg19",
        "id": "chr6:g.21595099G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.21594868G>C?assembly=hg38",
        "id": "chr6:g.21594868G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1464282327",
        "rs": 1464282327
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 21594868,
          "referenceAllele": "G",
          "start": 21594867
        }
      ],
      "hgvs": [
        "NC_000006.12:g.21594868G>C",
        "CM000668.2:g.21594868G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 21595099,
          "referenceAllele": "G",
          "start": 21595098
        }
      ],
      "hgvs": [
        "NC_000006.11:g.21595099G>C",
        "CM000668.1:g.21595099G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 21703078,
          "referenceAllele": "G",
          "start": 21703077
        }
      ],
      "hgvs": [
        "NC_000006.10:g.21703078G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6128,
          "referenceAllele": "G",
          "start": 6127
        }
      ],
      "hgvs": [
        "NG_029166.1:g.6128G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004292"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011200",
      "geneNCBI_id": 6659,
      "geneSymbol": "SOX4",
      "hgvs": [
        "ENST00000244745.4:c.334G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244745.1:p.Ala112Pro",
        "hgvsWellDefined": "ENSP00000244745.1:p.Ala112Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244745.4:c.334G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003107.3:c.334G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244745.1:p.Ala112Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003098.1:p.Ala112Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2100,
          "referenceAllele": "G",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011200",
      "geneNCBI_id": 6659,
      "geneSymbol": "SOX4",
      "hgvs": [
        "ENST00000244745.2:c.334G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244745.1:p.Ala112Pro",
        "hgvsWellDefined": "ENSP00000244745.1:p.Ala112Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980052",
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011200",
      "geneNCBI_id": 6659,
      "geneSymbol": "SOX4",
      "hgvs": [
        "NM_003107.2:c.334G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003098.1:p.Ala112Pro",
        "hgvsWellDefined": "NP_003098.1:p.Ala112Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028379"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980052",
      "coordinates": [
        {
          "allele": "C",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011200",
      "geneNCBI_id": 6659,
      "geneSymbol": "SOX4",
      "hgvs": [
        "NM_003107.3:c.334G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003098.1:p.Ala112Pro",
        "hgvsWellDefined": "NP_003098.1:p.Ala112Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244745.4:c.334G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003107.3:c.334G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244745.1:p.Ala112Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003098.1:p.Ala112Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}