{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381702899",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=838978[alleleid]",
        "alleleId": 838978,
        "preferredName": "NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/845177",
        "RCV": [
          "RCV001048198"
        ],
        "variationId": 845177
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71148869A>T?assembly=hg19",
        "id": "chr11:g.71148869A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71437823A>T?assembly=hg38",
        "id": "chr11:g.71437823A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1177326550",
        "rs": 1177326550
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71148869-A-T?dataset=gnomad_r2_1",
        "id": "11-71148869-A-T",
        "variant": "11:71148869 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71437823-A-T?dataset=gnomad_r4",
        "id": "11-71437823-A-T",
        "variant": "11:71437823 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71437823,
          "referenceAllele": "A",
          "start": 71437822
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71437823A>T",
        "CM000673.2:g.71437823A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71148869,
          "referenceAllele": "A",
          "start": 71148868
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71148869A>T",
        "CM000673.1:g.71148869A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 70826517,
          "referenceAllele": "A",
          "start": 70826516
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70826517A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15609,
          "referenceAllele": "T",
          "start": 15608
        }
      ],
      "hgvs": [
        "NG_012655.2:g.15609T>A",
        "LRG_340:g.15609T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Tyr318Asn",
        "hgvsWellDefined": "ENSP00000435707.3:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Tyr318Asn",
        "hgvsWellDefined": "ENSP00000435668.2:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "referenceAllele": "T",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.778T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Tyr260Asn",
        "hgvsWellDefined": "ENSP00000435047.2:p.Tyr260Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "referenceAllele": "T",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.1003T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Tyr335Asn",
        "hgvsWellDefined": "ENSP00000506866.1:p.Tyr335Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682880.1:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507520.1:p.Tyr318Asn",
        "hgvsWellDefined": "ENSP00000507520.1:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "T",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.988T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Tyr330Asn",
        "hgvsWellDefined": "ENSP00000507607.1:p.Tyr330Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Tyr318Asn",
        "hgvsWellDefined": "ENSP00000508207.1:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.992T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "T",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.367T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Tyr123Asn",
        "hgvsWellDefined": "ENSP00000509319.1:p.Tyr123Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.856T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Tyr286Asn",
        "hgvsWellDefined": "ENSP00000510750.1:p.Tyr286Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "T",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Tyr318Asn",
        "hgvsWellDefined": "ENSP00000347717.4:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.952T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.952T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr318Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr318Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "referenceAllele": "T",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Tyr318Asn",
        "hgvsWellDefined": "ENSP00000347717.3:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "T",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Tyr318Asn",
        "hgvsWellDefined": "ENSP00000384739.2:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "T",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.319T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Tyr107Asn",
        "hgvsWellDefined": "ENSP00000435956.1:p.Tyr107Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "T",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.202T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:p.Tyr68Asn",
        "hgvsWellDefined": "ENSP00000435011.1:p.Tyr68Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.308T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964476",
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "T",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr318Asn",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139700511",
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "T",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.952T>A",
        "LRG_340t1:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr318Asn",
        "hgvsWellDefined": "NP_001351.2:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "T",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Tyr318Asn",
        "hgvsWellDefined": "XP_011543079.1:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1181,
          "referenceAllele": "T",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Tyr318Asn",
        "hgvsWellDefined": "XP_011543079.1:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964476",
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "T",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Tyr318Asn",
        "hgvsWellDefined": "NP_001157289.1:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139700511",
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "T",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.952T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Tyr318Asn",
        "hgvsWellDefined": "NP_001351.2:p.Tyr318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.952T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.952T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Tyr318Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Tyr318Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}