{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384514631",
  "communityStandardTitle": [
    "NM_000376.3(VDR):c.1036G>C (p.Val346Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48238777C>G?assembly=hg19",
        "id": "chr12:g.48238777C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.47844994C>G?assembly=hg38",
        "id": "chr12:g.47844994C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 47844994,
          "referenceAllele": "C",
          "start": 47844993
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47844994C>G",
        "CM000674.2:g.47844994C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 48238777,
          "referenceAllele": "C",
          "start": 48238776
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48238777C>G",
        "CM000674.1:g.48238777C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 46525044,
          "referenceAllele": "C",
          "start": 46525043
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46525044C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65038,
          "referenceAllele": "G",
          "start": 65037
        }
      ],
      "hgvs": [
        "NG_008731.1:g.65038G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "referenceAllele": "G",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000229022.9:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229022.5:p.Val346Leu",
        "hgvsWellDefined": "ENSP00000229022.5:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000549336.6:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449573.2:p.Val346Leu",
        "hgvsWellDefined": "ENSP00000449573.2:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759925",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549336.6:c.1036G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000376.3:c.1036G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449573.2:p.Val346Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000367.1:p.Val346Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000229022.7:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229022.3:p.Val346Leu",
        "hgvsWellDefined": "ENSP00000229022.3:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000395324.6:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378734.2:p.Val346Leu",
        "hgvsWellDefined": "ENSP00000378734.2:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000547065.1:c.*1038G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449074.1:n.*1038G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000549336.5:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449573.1:p.Val346Leu",
        "hgvsWellDefined": "ENSP00000449573.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1559,
          "referenceAllele": "G",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000550325.5:c.1186G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447173.1:p.Val396Leu",
        "hgvsWellDefined": "ENSP00000447173.1:p.Val396Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367975"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079354857",
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_000376.2:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000367.1:p.Val346Leu",
        "hgvsWellDefined": "NP_000367.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017535.1:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017535.1:p.Val346Leu",
        "hgvsWellDefined": "NP_001017535.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017536.1:c.1186G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017536.1:p.Val396Leu",
        "hgvsWellDefined": "NP_001017536.1:p.Val396Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_006719587.2:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719650.1:p.Val346Leu",
        "hgvsWellDefined": "XP_006719650.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_011538720.1:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537022.1:p.Val346Leu",
        "hgvsWellDefined": "XP_011537022.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001364085.1:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351014.1:p.Val346Leu",
        "hgvsWellDefined": "NP_001351014.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_006719587.3:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719650.1:p.Val346Leu",
        "hgvsWellDefined": "XP_006719650.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_011538720.2:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537022.1:p.Val346Leu",
        "hgvsWellDefined": "XP_011537022.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "XM_024449178.1:c.1105G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304946.1:p.Val369Leu",
        "hgvsWellDefined": "XP_024304946.1:p.Val369Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079354857",
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_000376.3:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000367.1:p.Val346Leu",
        "hgvsWellDefined": "NP_000367.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549336.6:c.1036G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000376.3:c.1036G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449573.2:p.Val346Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000367.1:p.Val346Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017535.2:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017535.1:p.Val346Leu",
        "hgvsWellDefined": "NP_001017535.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001017536.2:c.1186G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017536.1:p.Val396Leu",
        "hgvsWellDefined": "NP_001017536.1:p.Val396Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001364085.2:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351014.1:p.Val346Leu",
        "hgvsWellDefined": "NP_001351014.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001374661.1:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361590.1:p.Val346Leu",
        "hgvsWellDefined": "NP_001361590.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001374662.1:c.1036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361591.1:p.Val346Leu",
        "hgvsWellDefined": "NP_001361591.1:p.Val346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693340"
    }
  ],
  "type": "nucleotide"
}