{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA438368198",
  "communityStandardTitle": [
    "NM_006005.3(WFS1):c.1233T>A (p.Ser411=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.6302755T>A?assembly=hg19",
        "id": "chr4:g.6302755T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 6301028,
          "referenceAllele": "T",
          "start": 6301027
        }
      ],
      "hgvs": [
        "NC_000004.12:g.6301028T>A",
        "CM000666.2:g.6301028T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 6302755,
          "referenceAllele": "T",
          "start": 6302754
        }
      ],
      "hgvs": [
        "NC_000004.11:g.6302755T>A",
        "CM000666.1:g.6302755T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 6353656,
          "referenceAllele": "T",
          "start": 6353655
        }
      ],
      "hgvs": [
        "NC_000004.10:g.6353656T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36179,
          "referenceAllele": "T",
          "start": 36178
        }
      ],
      "hgvs": [
        "NG_011700.1:g.36179T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001909"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "T",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000682275.1:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507852.1:p.Ser423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "T",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000683395.1:c.1210T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "T",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000684087.1:c.1233T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506978.1:p.Ser411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "T",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000506362.2:c.984T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424103.2:p.Ser328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673642.1:c.892T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501242.1:p.Cys298Ser",
        "hgvsWellDefined": "ENSP00000501242.1:p.Cys298Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "T",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673991.1:c.1269T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501033.1:p.Ser423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "T",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000226760.5:c.1233T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226760.1:p.Ser411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.1233T>A"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.1233T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Ser411="
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Ser411="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000503569.5:c.1233T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423337.1:p.Ser411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000507765.1:n.1418T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825919970",
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_001145853.1:c.1233T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139325.1:p.Ser411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829620047",
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "T",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_006005.3:c.1233T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005996.2:p.Ser411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.1233T>A"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.1233T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:p.Ser411="
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:p.Ser411="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "T",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "XM_017008586.1:c.1242T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864075.1:p.Ser414="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563066"
    }
  ],
  "type": "nucleotide"
}