{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119026",
  "communityStandardTitle": [
    "NM_000376.3(VDR):c.239G>A (p.Arg80Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22788[alleleid]",
        "alleleId": 22788,
        "preferredName": "NM_000376.3(VDR):c.239G>A (p.Arg80Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7749",
        "RCV": [
          "RCV000008190",
          "RCV002512895"
        ],
        "variationId": 7749
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-48258868-C-T",
        "id": "12-48258868-C-T",
        "variant": "12:48258868 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48258868C>T?assembly=hg19",
        "id": "chr12:g.48258868C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.47865085C>T?assembly=hg38",
        "id": "chr12:g.47865085C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909793",
        "rs": 121909793
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-47865085-C-T?dataset=gnomad_r4",
        "id": "12-47865085-C-T",
        "variant": "12:47865085 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 47865085,
          "referenceAllele": "C",
          "start": 47865084
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47865085C>T",
        "CM000674.2:g.47865085C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 48258868,
          "referenceAllele": "C",
          "start": 48258867
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48258868C>T",
        "CM000674.1:g.48258868C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 46545135,
          "referenceAllele": "C",
          "start": 46545134
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46545135C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44947,
          "referenceAllele": "G",
          "start": 44946
        }
      ],
      "hgvs": [
        "NG_008731.1:g.44947G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000229022.9:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229022.5:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000229022.5:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000549336.6:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449573.2:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000449573.2:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759925",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549336.6:c.239G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000376.3:c.239G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449573.2:p.Arg80Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000367.1:p.Arg80Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000229022.7:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229022.3:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000229022.3:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000395324.6:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378734.2:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000378734.2:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000546653.5:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448659.1:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000448659.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000547065.1:c.*241G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449074.1:n.*241G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000548664.1:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450105.1:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000450105.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000549336.5:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449573.1:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000449573.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000550314.5:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449561.1:p.Arg80Gln",
        "hgvsWellDefined": "ENSP00000449561.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000550325.5:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447173.1:p.Arg130Gln",
        "hgvsWellDefined": "ENSP00000447173.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367975"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102040",
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_000376.2:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000367.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_000367.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006438"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119027",
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017535.1:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017535.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_001017535.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825318576",
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017536.1:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017536.1:p.Arg130Gln",
        "hgvsWellDefined": "NP_001017536.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "referenceAllele": "G",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_006719587.2:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719650.1:p.Arg80Gln",
        "hgvsWellDefined": "XP_006719650.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_011538720.1:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537022.1:p.Arg80Gln",
        "hgvsWellDefined": "XP_011537022.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044616",
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001364085.1:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351014.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_001351014.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "referenceAllele": "G",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_006719587.3:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719650.1:p.Arg80Gln",
        "hgvsWellDefined": "XP_006719650.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_011538720.2:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537022.1:p.Arg80Gln",
        "hgvsWellDefined": "XP_011537022.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "G",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_024449178.1:c.308G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304946.1:p.Arg103Gln",
        "hgvsWellDefined": "XP_024304946.1:p.Arg103Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102040",
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_000376.3:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000367.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_000367.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549336.6:c.239G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000376.3:c.239G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449573.2:p.Arg80Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000367.1:p.Arg80Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA119027",
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017535.2:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017535.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_001017535.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825318576",
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017536.2:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017536.1:p.Arg130Gln",
        "hgvsWellDefined": "NP_001017536.1:p.Arg130Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044616",
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001364085.2:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351014.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_001351014.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828533639",
      "coordinates": [
        {
          "allele": "A",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001374661.1:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361590.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_001361590.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573073126",
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001374662.1:c.239G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361591.1:p.Arg80Gln",
        "hgvsWellDefined": "NP_001361591.1:p.Arg80Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693340"
    }
  ],
  "type": "nucleotide"
}