{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7298529",
  "communityStandardTitle": [
    "NM_018418.5(SPATA7):c.387G>A (p.Pro129=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330943[alleleid]",
        "alleleId": 330943,
        "preferredName": "NM_018418.5(SPATA7):c.387G>A (p.Pro129=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/314781",
        "RCV": [
          "RCV000389308",
          "RCV000952248"
        ],
        "variationId": 314781
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-88892590-G-A",
        "id": "14-88892590-G-A",
        "variant": "14:88892590 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.88892590G>A?assembly=hg19",
        "id": "chr14:g.88892590G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.88426246G>A?assembly=hg38",
        "id": "chr14:g.88426246G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199727517",
        "rs": 199727517
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88892590-G-A?dataset=gnomad_r2_1",
        "id": "14-88892590-G-A",
        "variant": "14:88892590 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88426246-G-A?dataset=gnomad_r3",
        "id": "14-88426246-G-A",
        "variant": "14:88426246 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-88426246-G-A?dataset=gnomad_r4",
        "id": "14-88426246-G-A",
        "variant": "14:88426246 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 88426246,
          "referenceAllele": "G",
          "start": 88426245
        }
      ],
      "hgvs": [
        "NC_000014.9:g.88426246G>A",
        "CM000676.2:g.88426246G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 88892590,
          "referenceAllele": "G",
          "start": 88892589
        }
      ],
      "hgvs": [
        "NC_000014.8:g.88892590G>A",
        "CM000676.1:g.88892590G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 87962343,
          "referenceAllele": "G",
          "start": 87962342
        }
      ],
      "hgvs": [
        "NC_000014.7:g.87962343G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45603,
          "referenceAllele": "G",
          "start": 45602
        }
      ],
      "hgvs": [
        "NG_021183.1:g.45603G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003462"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000393545.9:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377176.4:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393545.9:c.387G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018418.5:c.387G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377176.4:p.Pro129="
          },
          "RefSeq": {
            "hgvs": "NP_060888.2:p.Pro129="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 387,
          "referenceAllele": "G",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000045347.11:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000045347.7:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000356583.9:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348991.5:p.Pro97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000393545.8:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377176.4:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000553626.5:n.515G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000553885.5:c.345G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450606.1:p.Pro115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000553908.5:c.*262G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452546.1:n.*262G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000555401.5:c.216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452435.1:p.Pro72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000555515.5:c.*262G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450882.1:n.*262G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000555534.5:c.*191G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450515.1:n.*191G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000556553.5:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451128.1:p.Pro97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000556666.5:n.934G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000556870.5:c.*191G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452359.1:n.*191G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "ENST00000557248.5:c.*107G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451690.1:n.*107G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825363421",
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_001040428.3:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035518.1:p.Pro97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829903852",
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_018418.4:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060888.2:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267851.1:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267908.1:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 462,
          "referenceAllele": "G",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267852.1:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267909.1:p.Pro97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267854.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267911.1:p.Pro65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267855.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267912.1:p.Pro65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_006720204.1:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720267.1:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_006720205.1:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720268.1:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_011536951.1:c.234G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535253.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_011536952.1:c.216G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535254.1:p.Pro72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 666,
          "referenceAllele": "G",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_011536953.1:c.69G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535255.1:p.Pro23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_005267852.2:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267909.1:p.Pro97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021452.1:c.234G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876941.1:p.Pro78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021453.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876942.1:p.Pro65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021454.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876943.1:p.Pro65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021455.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876944.1:p.Pro65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "referenceAllele": "G",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021456.1:c.195G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876945.1:p.Pro65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 666,
          "referenceAllele": "G",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_017021457.1:c.69G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876946.1:p.Pro23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XM_024449660.1:c.216G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305428.1:p.Pro72="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XR_002957563.1:n.458G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829903852",
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_018418.5:c.387G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060888.2:p.Pro129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393545.9:c.387G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018418.5:c.387G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377176.4:p.Pro129="
          },
          "RefSeq": {
            "hgvs": "NP_060888.2:p.Pro129="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825363421",
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_001040428.4:c.291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035518.1:p.Pro97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711647"
    }
  ],
  "type": "nucleotide"
}