{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274343",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186841[alleleid]",
        "alleleId": 186841,
        "preferredName": "NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189069",
        "RCV": [
          "RCV000169472",
          "RCV001171660",
          "RCV002453569"
        ],
        "variationId": 189069
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71146710C>T?assembly=hg19",
        "id": "chr11:g.71146710C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71435664C>T?assembly=hg38",
        "id": "chr11:g.71435664C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779709646",
        "rs": 779709646
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71146710-C-T?dataset=gnomad_r2_1",
        "id": "11-71146710-C-T",
        "variant": "11:71146710 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71435664-C-T?dataset=gnomad_r3",
        "id": "11-71435664-C-T",
        "variant": "11:71435664 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71435664-C-T?dataset=gnomad_r4",
        "id": "11-71435664-C-T",
        "variant": "11:71435664 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71435664,
          "referenceAllele": "C",
          "start": 71435663
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71435664C>T",
        "CM000673.2:g.71435664C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71146710,
          "referenceAllele": "C",
          "start": 71146709
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71146710C>T",
        "CM000673.1:g.71146710C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 70824358,
          "referenceAllele": "C",
          "start": 70824357
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70824358C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17768,
          "referenceAllele": "G",
          "start": 17767
        }
      ],
      "hgvs": [
        "NG_012655.2:g.17768G>A",
        "LRG_340:g.17768G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Cys380Tyr",
        "hgvsWellDefined": "ENSP00000435707.3:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "referenceAllele": "G",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Cys380Tyr",
        "hgvsWellDefined": "ENSP00000435668.2:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.965G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Cys322Tyr",
        "hgvsWellDefined": "ENSP00000435047.2:p.Cys322Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1467,
          "referenceAllele": "G",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.1190G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Cys397Tyr",
        "hgvsWellDefined": "ENSP00000506866.1:p.Cys397Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.1175G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Cys392Tyr",
        "hgvsWellDefined": "ENSP00000507607.1:p.Cys392Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.1147G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Ala383Thr",
        "hgvsWellDefined": "ENSP00000508207.1:p.Ala383Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.1179G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Cys185Tyr",
        "hgvsWellDefined": "ENSP00000509319.1:p.Cys185Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1272,
          "referenceAllele": "G",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.1043G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Cys348Tyr",
        "hgvsWellDefined": "ENSP00000510750.1:p.Cys348Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Cys380Tyr",
        "hgvsWellDefined": "ENSP00000347717.4:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.1139G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.1139G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Cys380Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Cys380Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Cys380Tyr",
        "hgvsWellDefined": "ENSP00000347717.3:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Cys380Tyr",
        "hgvsWellDefined": "ENSP00000384739.2:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "referenceAllele": "G",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Ala214Thr",
        "hgvsWellDefined": "ENSP00000435956.1:p.Ala214Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.389G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:p.Cys130Tyr",
        "hgvsWellDefined": "ENSP00000435011.1:p.Cys130Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 2148,
          "referenceAllele": "G",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.319+2148G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Cys380Tyr",
        "hgvsWellDefined": "NP_001157289.1:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274345",
      "coordinates": [
        {
          "allele": "A",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.1139G>A",
        "LRG_340t1:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Cys380Tyr",
        "hgvsWellDefined": "NP_001351.2:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.1273G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Ala425Thr",
        "hgvsWellDefined": "XP_011543079.1:p.Ala425Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1502,
          "referenceAllele": "G",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.1273G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Ala425Thr",
        "hgvsWellDefined": "XP_011543079.1:p.Ala425Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA106486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Cys380Tyr",
        "hgvsWellDefined": "NP_001157289.1:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274345",
      "coordinates": [
        {
          "allele": "A",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Cys380Tyr",
        "hgvsWellDefined": "NP_001351.2:p.Cys380Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.1139G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.1139G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Cys380Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Cys380Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}