{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10544745",
  "communityStandardTitle": [
    "NM_015922.3(NSDHL):c.306C>T (p.Phe102=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=694807[alleleid]",
        "alleleId": 694807,
        "preferredName": "NM_015922.3(NSDHL):c.306C>T (p.Phe102=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/707162",
        "RCV": [
          "RCV000878040",
          "RCV002279594",
          "RCV002507543"
        ],
        "variationId": 707162
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-152027352-C-T",
        "id": "X-152027352-C-T",
        "variant": "X:152027352 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152027352C>T?assembly=hg19",
        "id": "chrX:g.152027352C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.152858808C>T?assembly=hg38",
        "id": "chrX:g.152858808C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141089248",
        "rs": 141089248
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-152027352-C-T?dataset=gnomad_r2_1",
        "id": "X-152027352-C-T",
        "variant": "X:152027352 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-152858808-C-T?dataset=gnomad_r3",
        "id": "X-152858808-C-T",
        "variant": "X:152858808 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-152858808-C-T?dataset=gnomad_r4",
        "id": "X-152858808-C-T",
        "variant": "X:152858808 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152858808,
          "referenceAllele": "C",
          "start": 152858807
        }
      ],
      "hgvs": [
        "NC_000023.11:g.152858808C>T",
        "CM000685.2:g.152858808C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152027352,
          "referenceAllele": "C",
          "start": 152027351
        }
      ],
      "hgvs": [
        "NC_000023.10:g.152027352C>T",
        "CM000685.1:g.152027352C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 151778008,
          "referenceAllele": "C",
          "start": 151778007
        }
      ],
      "hgvs": [
        "NC_000023.9:g.151778008C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32842,
          "referenceAllele": "C",
          "start": 32841
        }
      ],
      "hgvs": [
        "NG_009163.1:g.32842C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32842,
          "referenceAllele": "C",
          "start": 32841
        }
      ],
      "hgvs": [
        "NG_009163.2:g.32842C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673520"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "ENST00000370274.8:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359297.3:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750573",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370274.8:c.306C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015922.3:c.306C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359297.3:p.Phe102="
          },
          "RefSeq": {
            "hgvs": "NP_057006.1:p.Phe102="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "ENST00000370274.7:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359297.3:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "ENST00000432467.1:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396266.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "ENST00000440023.5:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391854.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825702009",
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "NM_001129765.1:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123237.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829838520",
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "NM_015922.2:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057006.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "XM_011531178.1:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529480.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "XM_011531178.2:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529480.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "XM_017029564.1:c.354C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885053.1:p.Phe118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579084"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829838520",
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "NM_015922.3:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057006.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370274.8:c.306C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015922.3:c.306C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359297.3:p.Phe102="
          },
          "RefSeq": {
            "hgvs": "NP_057006.1:p.Phe102="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825702009",
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "C",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013398",
      "geneNCBI_id": 50814,
      "geneSymbol": "NSDHL",
      "hgvs": [
        "NM_001129765.2:c.306C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123237.1:p.Phe102="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712277"
    }
  ],
  "type": "nucleotide"
}