{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6162464",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.771G>A (p.Ala257=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5510531"
      },
      {
        "active": false,
        "id": "COSM5510532"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584855[alleleid]",
        "alleleId": 584855,
        "preferredName": "NM_001360.3(DHCR7):c.771G>A (p.Ala257=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593792",
        "RCV": [
          "RCV000728929",
          "RCV001472401",
          "RCV004026961"
        ],
        "variationId": 593792
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-71149985-C-T",
        "id": "11-71149985-C-T",
        "variant": "11:71149985 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71149985C>T?assembly=hg19",
        "id": "chr11:g.71149985C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71438939C>T?assembly=hg38",
        "id": "chr11:g.71438939C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200232012",
        "rs": 200232012
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71149985-C-T?dataset=gnomad_r2_1",
        "id": "11-71149985-C-T",
        "variant": "11:71149985 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71438939-C-T?dataset=gnomad_r3",
        "id": "11-71438939-C-T",
        "variant": "11:71438939 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71438939-C-T?dataset=gnomad_r4",
        "id": "11-71438939-C-T",
        "variant": "11:71438939 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71438939,
          "referenceAllele": "C",
          "start": 71438938
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71438939C>T",
        "CM000673.2:g.71438939C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71149985,
          "referenceAllele": "C",
          "start": 71149984
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71149985C>T",
        "CM000673.1:g.71149985C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 70827633,
          "referenceAllele": "C",
          "start": 70827632
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70827633C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14493,
          "referenceAllele": "G",
          "start": 14492
        }
      ],
      "hgvs": [
        "NG_012655.2:g.14493G>A",
        "LRG_340:g.14493G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.597G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Ala199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.822G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Ala274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682880.1:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507520.1:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "G",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.807G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Ala269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.811G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Ala62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Ala225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.771G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.771G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Ala257="
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Ala257="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "referenceAllele": "G",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.5:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.1:p.Ala225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21,
          "referenceAllele": "G",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.21G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:p.Ala7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534701.1:n.266G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.127G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964394",
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828110146",
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.771G>A",
        "LRG_340t1:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964394",
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828110146",
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.771G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.771G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Ala257="
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Ala257="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}