{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6162491",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546581[alleleid]",
        "alleleId": 546581,
        "preferredName": "NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558494",
        "RCV": [
          "RCV000674773",
          "RCV001267993",
          "RCV002282323"
        ],
        "variationId": 558494
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-71150074-G-A",
        "id": "11-71150074-G-A",
        "variant": "11:71150074 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71150074G>A?assembly=hg19",
        "id": "chr11:g.71150074G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71439028G>A?assembly=hg38",
        "id": "chr11:g.71439028G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775773057",
        "rs": 775773057
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71150074-G-A?dataset=gnomad_r2_1",
        "id": "11-71150074-G-A",
        "variant": "11:71150074 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71439028-G-A?dataset=gnomad_r3",
        "id": "11-71439028-G-A",
        "variant": "11:71439028 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71439028-G-A?dataset=gnomad_r4",
        "id": "11-71439028-G-A",
        "variant": "11:71439028 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71439028,
          "referenceAllele": "G",
          "start": 71439027
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71439028G>A",
        "CM000673.2:g.71439028G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71150074,
          "referenceAllele": "G",
          "start": 71150073
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71150074G>A",
        "CM000673.1:g.71150074G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 70827722,
          "referenceAllele": "G",
          "start": 70827721
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70827722G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14404,
          "referenceAllele": "C",
          "start": 14403
        }
      ],
      "hgvs": [
        "NG_012655.2:g.14404C>T",
        "LRG_340:g.14404C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Arg228Trp",
        "hgvsWellDefined": "ENSP00000435707.3:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Arg228Trp",
        "hgvsWellDefined": "ENSP00000435668.2:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Arg170Trp",
        "hgvsWellDefined": "ENSP00000435047.2:p.Arg170Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Arg245Trp",
        "hgvsWellDefined": "ENSP00000506866.1:p.Arg245Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682880.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507520.1:p.Arg228Trp",
        "hgvsWellDefined": "ENSP00000507520.1:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Arg240Trp",
        "hgvsWellDefined": "ENSP00000507607.1:p.Arg240Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Arg228Trp",
        "hgvsWellDefined": "ENSP00000508207.1:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.722C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.97C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Arg33Trp",
        "hgvsWellDefined": "ENSP00000509319.1:p.Arg33Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.586C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Arg196Trp",
        "hgvsWellDefined": "ENSP00000510750.1:p.Arg196Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Arg228Trp",
        "hgvsWellDefined": "ENSP00000347717.4:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.682C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.682C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Arg228Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Arg228Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Arg228Trp",
        "hgvsWellDefined": "ENSP00000347717.3:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Arg228Trp",
        "hgvsWellDefined": "ENSP00000384739.2:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49,
          "referenceAllele": "C",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Arg17Trp",
        "hgvsWellDefined": "ENSP00000435956.1:p.Arg17Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.5:c.586C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.1:p.Arg196Trp",
        "hgvsWellDefined": "ENSP00000435047.1:p.Arg196Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534701.1:n.177C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "referenceAllele": "C",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.38C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964357",
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Arg228Trp",
        "hgvsWellDefined": "NP_001157289.1:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828896",
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "C",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.682C>T",
        "LRG_340t1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Arg228Trp",
        "hgvsWellDefined": "NP_001351.2:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Arg228Trp",
        "hgvsWellDefined": "XP_011543079.1:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Arg228Trp",
        "hgvsWellDefined": "XP_011543079.1:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964357",
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Arg228Trp",
        "hgvsWellDefined": "NP_001157289.1:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658828896",
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Arg228Trp",
        "hgvsWellDefined": "NP_001351.2:p.Arg228Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.682C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.682C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Arg228Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Arg228Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}