{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2113849",
  "communityStandardTitle": [
    "NM_025216.3(WNT10A):c.159C>T (p.Pro53=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4091546",
        "active": true,
        "id": "COSM4091546"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1069099[alleleid]",
        "alleleId": 1069099,
        "preferredName": "NM_025216.3(WNT10A):c.159C>T (p.Pro53=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1082175",
        "RCV": [
          "RCV001398399"
        ],
        "variationId": 1082175
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-219746928-C-T",
        "id": "2-219746928-C-T",
        "variant": "2:219746928 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219746928C>T?assembly=hg19",
        "id": "chr2:g.219746928C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218882206C>T?assembly=hg38",
        "id": "chr2:g.218882206C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143421847",
        "rs": 143421847
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219746928-C-T?dataset=gnomad_r2_1",
        "id": "2-219746928-C-T",
        "variant": "2:219746928 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218882206-C-T?dataset=gnomad_r3",
        "id": "2-218882206-C-T",
        "variant": "2:218882206 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218882206-C-T?dataset=gnomad_r4",
        "id": "2-218882206-C-T",
        "variant": "2:218882206 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 218882206,
          "referenceAllele": "C",
          "start": 218882205
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218882206C>T",
        "CM000664.2:g.218882206C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219746928,
          "referenceAllele": "C",
          "start": 219746927
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219746928C>T",
        "CM000664.1:g.219746928C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219455172,
          "referenceAllele": "C",
          "start": 219455171
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219455172C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6674,
          "referenceAllele": "C",
          "start": 6673
        }
      ],
      "hgvs": [
        "NG_012179.1:g.6674C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002262"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "ENST00000258411.8:c.159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258411.3:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258411.8:c.159C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025216.3:c.159C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258411.3:p.Pro53="
          },
          "RefSeq": {
            "hgvs": "NP_079492.2:p.Pro53="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "ENST00000258411.7:c.159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258411.3:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46,
          "referenceAllele": "C",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "ENST00000458582.1:c.46C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830030963",
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "NM_025216.2:c.159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079492.2:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "XM_011511928.1:c.108C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510230.1:p.Pro36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "XM_011511929.1:c.63C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510231.1:p.Pro21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "XM_011511930.1:c.159C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510232.1:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "C",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "XM_011511929.2:c.63C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510231.1:p.Pro21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830030963",
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013829",
      "geneNCBI_id": 80326,
      "geneSymbol": "WNT10A",
      "hgvs": [
        "NM_025216.3:c.159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079492.2:p.Pro53="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258411.8:c.159C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025216.3:c.159C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258411.3:p.Pro53="
          },
          "RefSeq": {
            "hgvs": "NP_079492.2:p.Pro53="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}