{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2034429270",
  "communityStandardTitle": [
    "NM_000376.3(VDR):c.137G= (p.Gly46=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909797",
        "rs": 121909797
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 47878977,
          "referenceAllele": "C",
          "start": 47878976
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47878977C=",
        "CM000674.2:g.47878977C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48272760,
          "referenceAllele": "C",
          "start": 48272759
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48272760C=",
        "CM000674.1:g.48272760C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46559027,
          "referenceAllele": "C",
          "start": 46559026
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46559027C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31055,
          "referenceAllele": "G",
          "start": 31054
        }
      ],
      "hgvs": [
        "NG_008731.1:g.31055G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "G",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000229022.9:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229022.5:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000549336.6:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449573.2:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759925",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549336.6:c.137G="
          },
          "RefSeq": {
            "hgvs": "NM_000376.3:c.137G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449573.2:p.Gly46="
          },
          "RefSeq": {
            "hgvs": "NP_000367.1:p.Gly46="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000229022.7:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229022.3:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248662"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000395324.6:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378734.2:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000546653.5:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448659.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000547065.1:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449074.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000548664.1:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450105.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000549336.5:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449573.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000550314.5:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449561.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000550325.5:c.287G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447173.1:p.Gly96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367975"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079289844",
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_000376.2:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000367.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017535.1:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017535.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017536.1:c.287G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017536.1:p.Gly96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_006719587.2:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719650.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_011538720.1:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537022.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001364085.1:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351014.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_006719587.3:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719650.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 329,
          "referenceAllele": "G",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_011538720.2:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537022.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_024449178.1:c.206G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304946.1:p.Gly69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079289844",
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_000376.3:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000367.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549336.6:c.137G="
          },
          "RefSeq": {
            "hgvs": "NM_000376.3:c.137G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449573.2:p.Gly46="
          },
          "RefSeq": {
            "hgvs": "NP_000367.1:p.Gly46="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017535.2:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017535.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017536.2:c.287G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017536.1:p.Gly96="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001364085.2:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351014.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001374661.1:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361590.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001374662.1:c.137G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361591.1:p.Gly46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693340"
    }
  ],
  "type": "nucleotide"
}