{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381703342",
  "communityStandardTitle": [
    "NM_001360.3(DHCR7):c.755A>T (p.Asn252Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71150001T>A?assembly=hg19",
        "id": "chr11:g.71150001T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71438955T>A?assembly=hg38",
        "id": "chr11:g.71438955T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1186843944",
        "rs": 1186843944
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71438955,
          "referenceAllele": "T",
          "start": 71438954
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71438955T>A",
        "CM000673.2:g.71438955T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71150001,
          "referenceAllele": "T",
          "start": 71150000
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71150001T>A",
        "CM000673.1:g.71150001T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 70827649,
          "referenceAllele": "T",
          "start": 70827648
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70827649T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14477,
          "referenceAllele": "A",
          "start": 14476
        }
      ],
      "hgvs": [
        "NG_012655.2:g.14477A>T",
        "LRG_340:g.14477A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002509"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525346.6:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435707.3:p.Asn252Ile",
        "hgvsWellDefined": "ENSP00000435707.3:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "A",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000526780.6:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435668.2:p.Asn252Ile",
        "hgvsWellDefined": "ENSP00000435668.2:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "A",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.6:c.581A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.2:p.Asn194Ile",
        "hgvsWellDefined": "ENSP00000435047.2:p.Asn194Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682708.1:c.806A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506866.1:p.Asn269Ile",
        "hgvsWellDefined": "ENSP00000506866.1:p.Asn269Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000682880.1:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507520.1:p.Asn252Ile",
        "hgvsWellDefined": "ENSP00000507520.1:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "A",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683287.1:c.791A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507607.1:p.Asn264Ile",
        "hgvsWellDefined": "ENSP00000507607.1:p.Asn264Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000683714.1:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508207.1:p.Asn252Ile",
        "hgvsWellDefined": "ENSP00000508207.1:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "A",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000684396.1:n.795A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "A",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000685320.1:c.170A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509319.1:p.Asn57Ile",
        "hgvsWellDefined": "ENSP00000509319.1:p.Asn57Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000690257.1:c.659A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510750.1:p.Asn220Ile",
        "hgvsWellDefined": "ENSP00000510750.1:p.Asn220Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "A",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.8:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.4:p.Asn252Ile",
        "hgvsWellDefined": "ENSP00000347717.4:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.755A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.755A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Asn252Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Asn252Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000355527.7:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347717.3:p.Asn252Ile",
        "hgvsWellDefined": "ENSP00000347717.3:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000407721.6:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384739.2:p.Asn252Ile",
        "hgvsWellDefined": "ENSP00000384739.2:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "A",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000525137.1:c.122A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435956.1:p.Asn41Ile",
        "hgvsWellDefined": "ENSP00000435956.1:p.Asn41Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000527316.5:c.659A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435047.1:p.Asn220Ile",
        "hgvsWellDefined": "ENSP00000435047.1:p.Asn220Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5,
          "referenceAllele": "A",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000533800.5:c.5A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435011.1:p.Asn2Ile",
        "hgvsWellDefined": "ENSP00000435011.1:p.Asn2Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534701.1:n.250A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "A",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "ENST00000534795.5:c.111A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "A",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.1:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Asn252Ile",
        "hgvsWellDefined": "NP_001157289.1:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078376465",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "A",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.2:c.755A>T",
        "LRG_340t1:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Asn252Ile",
        "hgvsWellDefined": "NP_001351.2:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "A",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.1:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Asn252Ile",
        "hgvsWellDefined": "XP_011543079.1:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "referenceAllele": "A",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "XM_011544777.2:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543079.1:p.Asn252Ile",
        "hgvsWellDefined": "XP_011543079.1:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001163817.2:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Asn252Ile",
        "hgvsWellDefined": "NP_001157289.1:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078376465",
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "A",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.755A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Asn252Ile",
        "hgvsWellDefined": "NP_001351.2:p.Asn252Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.755A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.755A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Asn252Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Asn252Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}