{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA91798146",
  "communityStandardTitle": [
    "NM_006005.3(WFS1):c.*149G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.6304344G>T?assembly=hg19",
        "id": "chr4:g.6304344G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.6302617G>T?assembly=hg38",
        "id": "chr4:g.6302617G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1046320",
        "rs": 1046320
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-6302617-G-T?dataset=gnomad_r3",
        "id": "4-6302617-G-T",
        "variant": "4:6302617 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-6302617-G-T?dataset=gnomad_r4",
        "id": "4-6302617-G-T",
        "variant": "4:6302617 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 6302617,
          "referenceAllele": "G",
          "start": 6302616
        }
      ],
      "hgvs": [
        "NC_000004.12:g.6302617G>T",
        "CM000666.2:g.6302617G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 6304344,
          "referenceAllele": "G",
          "start": 6304343
        }
      ],
      "hgvs": [
        "NC_000004.11:g.6304344G>T",
        "CM000666.1:g.6304344G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 6355245,
          "referenceAllele": "G",
          "start": 6355244
        }
      ],
      "hgvs": [
        "NC_000004.10:g.6355245G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37768,
          "referenceAllele": "G",
          "start": 37767
        }
      ],
      "hgvs": [
        "NG_011700.1:g.37768G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001909"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3028,
          "referenceAllele": "G",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000682275.1:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507852.1:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2799,
          "referenceAllele": "G",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000683395.1:c.2799G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2969,
          "referenceAllele": "G",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000684087.1:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506978.1:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2628,
          "referenceAllele": "G",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000506362.2:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424103.2:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3025,
          "referenceAllele": "G",
          "start": 3024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000673991.1:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501033.1:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2992,
          "referenceAllele": "G",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000226760.5:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226760.1:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.*149G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.*149G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:n.*149G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:n.*149G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2989,
          "referenceAllele": "G",
          "start": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000503569.5:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423337.1:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3007,
          "referenceAllele": "G",
          "start": 3006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "ENST00000507765.1:n.3007G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2988,
          "referenceAllele": "G",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_001145853.1:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139325.1:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2992,
          "referenceAllele": "G",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NM_006005.3:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005996.2:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000226760.5:c.*149G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006005.3:c.*149G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000226760.1:n.*149G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005996.2:n.*149G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2971,
          "referenceAllele": "G",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "XM_017008586.1:c.*149G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864075.1:n.*149G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563066"
    }
  ],
  "type": "nucleotide"
}