{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7298813",
  "communityStandardTitle": [
    "NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6029364",
        "active": true,
        "id": "COSM6029364"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273548[alleleid]",
        "alleleId": 273548,
        "preferredName": "NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289311",
        "RCV": [
          "RCV000294109",
          "RCV001078728",
          "RCV004535427"
        ],
        "variationId": 289311
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-88904412-C-T",
        "id": "14-88904412-C-T",
        "variant": "14:88904412 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.88904412C>T?assembly=hg19",
        "id": "chr14:g.88904412C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.88438068C>T?assembly=hg38",
        "id": "chr14:g.88438068C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766017194",
        "rs": 766017194
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88904412-C-T?dataset=gnomad_r2_1",
        "id": "14-88904412-C-T",
        "variant": "14:88904412 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88438068-C-T?dataset=gnomad_r3",
        "id": "14-88438068-C-T",
        "variant": "14:88438068 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88438068-C-T?dataset=gnomad_r4",
        "id": "14-88438068-C-T",
        "variant": "14:88438068 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 88438068,
          "referenceAllele": "C",
          "start": 88438067
        }
      ],
      "hgvs": [
        "NC_000014.9:g.88438068C>T",
        "CM000676.2:g.88438068C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 88904412,
          "referenceAllele": "C",
          "start": 88904411
        }
      ],
      "hgvs": [
        "NC_000014.8:g.88904412C>T",
        "CM000676.1:g.88904412C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 87974165,
          "referenceAllele": "C",
          "start": 87974164
        }
      ],
      "hgvs": [
        "NC_000014.7:g.87974165C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57425,
          "referenceAllele": "C",
          "start": 57424
        }
      ],
      "hgvs": [
        "NG_021183.1:g.57425C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003462"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000393545.9:c.1446C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377176.4:p.Asn482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393545.9:c.1446C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018418.5:c.1446C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377176.4:p.Asn482="
          },
          "RefSeq": {
            "hgvs": "NP_060888.2:p.Asn482="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "endIntronDirection": "+",
          "endIntronOffset": 165,
          "referenceAllele": "C",
          "start": 1281,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000045347.11:c.1281+165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000045347.7:n.1281+165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000356583.9:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348991.5:p.Asn450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000393545.8:c.1446C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377176.4:p.Asn482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000553303.1:n.876C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3225,
          "referenceAllele": "C",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000553626.5:n.3225C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "endIntronDirection": "+",
          "endIntronOffset": 165,
          "referenceAllele": "C",
          "start": 177,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000554802.1:c.177+165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451019.1:n.177+165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "+",
          "endIntronOffset": 165,
          "referenceAllele": "C",
          "start": 254,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000556406.5:c.254+165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000556553.5:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451128.1:p.Asn450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "C",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000556666.5:n.1993C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825363831",
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_001040428.3:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035518.1:p.Asn450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904265",
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_018418.4:c.1446C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060888.2:p.Asn482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267851.1:c.1449C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267908.1:p.Asn483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267852.1:c.1353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267909.1:p.Asn451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267854.1:c.1257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267911.1:p.Asn419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267855.1:c.1257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267912.1:p.Asn419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "endIntronDirection": "+",
          "endIntronOffset": 165,
          "referenceAllele": "C",
          "start": 1430,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_006720204.1:c.1284+165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720267.1:n.1284+165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1430,
          "endIntronDirection": "+",
          "endIntronOffset": 165,
          "referenceAllele": "C",
          "start": 1430,
          "startIntronDirection": "+",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_006720205.1:c.1284+165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720268.1:n.1284+165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_011536951.1:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535253.1:p.Asn432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_011536952.1:c.1278C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535254.1:p.Asn426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_011536953.1:c.1131C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535255.1:p.Asn377="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267852.2:c.1353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267909.1:p.Asn451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021452.1:c.1293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876941.1:p.Asn431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021453.1:c.1257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876942.1:p.Asn419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021454.1:c.1254C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876943.1:p.Asn418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021455.1:c.1254C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876944.1:p.Asn418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021456.1:c.1254C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876945.1:p.Asn418="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021457.1:c.1128C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876946.1:p.Asn376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_024449660.1:c.1275C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305428.1:p.Asn425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829904265",
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_018418.5:c.1446C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060888.2:p.Asn482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393545.9:c.1446C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018418.5:c.1446C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377176.4:p.Asn482="
          },
          "RefSeq": {
            "hgvs": "NP_060888.2:p.Asn482="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825363831",
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_001040428.4:c.1350C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035518.1:p.Asn450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711647"
    }
  ],
  "type": "nucleotide"
}