{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381701397",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1485066[alleleid]",
        "alleleId": 1485066,
        "preferredName": "NM_001360.3(DHCR7):c.1223A>T (p.Tyr408Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1487172",
        "RCV": [
          "RCV002006262"
        ],
        "variationId": 1487172
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71146626T>A?assembly=hg19",
        "id": "chr11:g.71146626T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71435580T>A?assembly=hg38",
        "id": "chr11:g.71435580T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1219026826",
        "rs": 1219026826
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71435580-T-A?dataset=gnomad_r4",
        "id": "11-71435580-T-A",
        "variant": "11:71435580 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71435580,
          "referenceAllele": "T",
          "start": 71435579
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71435580T>A",
        "CM000673.2:g.71435580T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71146626,
          "referenceAllele": "T",
          "start": 71146625
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71146626T>A",
        "CM000673.1:g.71146626T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 70824274,
          "referenceAllele": "T",
          "start": 70824273
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70824274T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17852,
          "referenceAllele": "A",
          "start": 17851
        }
      ],
      "hgvs": [
        "NG_012655.2:g.17852A>T",
        "LRG_340:g.17852A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "A",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Tyr408Phe",
        "hgvsWellDefined": "ENSP00000435707.3:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "referenceAllele": "A",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Tyr408Phe",
        "hgvsWellDefined": "ENSP00000435668.2:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "A",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.1049A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Tyr350Phe",
        "hgvsWellDefined": "ENSP00000435047.2:p.Tyr350Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "A",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.1274A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Tyr425Phe",
        "hgvsWellDefined": "ENSP00000506866.1:p.Tyr425Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1536,
          "referenceAllele": "A",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.1259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Tyr420Phe",
        "hgvsWellDefined": "ENSP00000507607.1:p.Tyr420Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "referenceAllele": "A",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.1231A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Thr411Ser",
        "hgvsWellDefined": "ENSP00000508207.1:p.Thr411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "A",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.1263A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "A",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.638A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Tyr213Phe",
        "hgvsWellDefined": "ENSP00000509319.1:p.Tyr213Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "A",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.1127A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Tyr376Phe",
        "hgvsWellDefined": "ENSP00000510750.1:p.Tyr376Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "A",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Tyr408Phe",
        "hgvsWellDefined": "ENSP00000347717.4:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.1223A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.1223A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr408Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr408Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "A",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Tyr408Phe",
        "hgvsWellDefined": "ENSP00000347717.3:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Tyr408Phe",
        "hgvsWellDefined": "ENSP00000384739.2:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "A",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.724A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Thr242Ser",
        "hgvsWellDefined": "ENSP00000435956.1:p.Thr242Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "A",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.473A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:p.Tyr158Phe",
        "hgvsWellDefined": "ENSP00000435011.1:p.Tyr158Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 2232,
          "referenceAllele": "A",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.319+2232A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964581",
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "A",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr408Phe",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573206578",
      "coordinates": [
        {
          "allele": "T",
          "end": 1496,
          "referenceAllele": "A",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.1223A>T",
        "LRG_340t1:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr408Phe",
        "hgvsWellDefined": "NP_001351.2:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "A",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.1357A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Thr453Ser",
        "hgvsWellDefined": "XP_011543079.1:p.Thr453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "A",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.1357A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Thr453Ser",
        "hgvsWellDefined": "XP_011543079.1:p.Thr453Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964581",
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr408Phe",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573206578",
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "A",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.1223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr408Phe",
        "hgvsWellDefined": "NP_001351.2:p.Tyr408Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.1223A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.1223A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr408Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr408Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}