{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6162397",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.957G>A (p.Thr319=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584629[alleleid]",
        "alleleId": 584629,
        "preferredName": "NM_001360.3(DHCR7):c.957G>A (p.Thr319=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593565",
        "RCV": [
          "RCV000728646",
          "RCV001468387",
          "RCV003908022"
        ],
        "variationId": 593565
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-71148864-C-T",
        "id": "11-71148864-C-T",
        "variant": "11:71148864 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71148864C>T?assembly=hg19",
        "id": "chr11:g.71148864C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71437818C>T?assembly=hg38",
        "id": "chr11:g.71437818C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200157761",
        "rs": 200157761
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71148864-C-T?dataset=gnomad_r2_1",
        "id": "11-71148864-C-T",
        "variant": "11:71148864 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71437818-C-T?dataset=gnomad_r3",
        "id": "11-71437818-C-T",
        "variant": "11:71437818 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71437818-C-T?dataset=gnomad_r4",
        "id": "11-71437818-C-T",
        "variant": "11:71437818 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71437818,
          "referenceAllele": "C",
          "start": 71437817
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71437818C>T",
        "CM000673.2:g.71437818C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71148864,
          "referenceAllele": "C",
          "start": 71148863
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71148864C>T",
        "CM000673.1:g.71148864C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 70826512,
          "referenceAllele": "C",
          "start": 70826511
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70826512C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15614,
          "referenceAllele": "G",
          "start": 15613
        }
      ],
      "hgvs": [
        "NG_012655.2:g.15614G>A",
        "LRG_340:g.15614G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.783G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Thr261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.1008G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Thr336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682880.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507520.1:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.993G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Thr331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.997G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.372G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Thr124="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.861G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Thr287="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Thr319="
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Thr319="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Thr108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.207G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:p.Thr69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.313G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964479",
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828110281",
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.957G>A",
        "LRG_340t1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "G",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964479",
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828110281",
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Thr319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Thr319="
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Thr319="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}