{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3146181922",
  "communityStandardTitle": [
    "NM_012470.4(TNPO3):c.2542T= (p.Tyr848=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773574448",
        "rs": 773574448
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2535922339",
        "rs": 2535922339
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128970204,
          "referenceAllele": "A",
          "start": 128970203
        }
      ],
      "hgvs": [
        "NC_000007.14:g.128970204A=",
        "CM000669.2:g.128970204A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128610258,
          "referenceAllele": "A",
          "start": 128610257
        }
      ],
      "hgvs": [
        "NC_000007.13:g.128610258A=",
        "CM000669.1:g.128610258A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128397494,
          "referenceAllele": "A",
          "start": 128397493
        }
      ],
      "hgvs": [
        "NC_000007.12:g.128397494A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89970,
          "referenceAllele": "T",
          "start": 89969
        }
      ],
      "hgvs": [
        "NG_023428.1:g.89970T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003861"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2883,
          "referenceAllele": "T",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "ENST00000265388.10:c.2542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265388.5:p.Tyr848="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265388.10:c.2542T="
          },
          "RefSeq": {
            "hgvs": "NM_012470.4:c.2542T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265388.5:p.Tyr848="
          },
          "RefSeq": {
            "hgvs": "NP_036602.1:p.Tyr848="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "T",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "ENST00000265388.9:c.2542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265388.5:p.Tyr848="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2757,
          "referenceAllele": "T",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "ENST00000471166.1:c.2644T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418267.1:p.Tyr882="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2724,
          "referenceAllele": "T",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "ENST00000471234.5:c.2350T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418646.1:p.Tyr784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3026,
          "referenceAllele": "T",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "ENST00000482320.5:c.2344T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420089.1:p.Tyr782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3047,
          "referenceAllele": "T",
          "start": 3046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "ENST00000627585.2:c.2644T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487231.1:p.Tyr882="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826170821",
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "T",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001191028.2:c.2350T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177957.2:p.Tyr784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708903",
      "coordinates": [
        {
          "allele": "T",
          "end": 2945,
          "referenceAllele": "T",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_012470.3:c.2542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_036602.1:p.Tyr848="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3106,
          "referenceAllele": "T",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_034053.2:n.3106T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2547,
          "referenceAllele": "T",
          "start": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "XM_011515989.1:c.2344T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514291.1:p.Tyr782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826170821",
      "coordinates": [
        {
          "allele": "T",
          "end": 2691,
          "referenceAllele": "T",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001191028.3:c.2350T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177957.2:p.Tyr784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828883613",
      "coordinates": [
        {
          "allele": "T",
          "end": 2985,
          "referenceAllele": "T",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382216.1:c.2644T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369145.1:p.Tyr882="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828883922",
      "coordinates": [
        {
          "allele": "T",
          "end": 2964,
          "referenceAllele": "T",
          "start": 2963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382217.1:c.2623T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369146.1:p.Tyr875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828884345",
      "coordinates": [
        {
          "allele": "T",
          "end": 2883,
          "referenceAllele": "T",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382218.1:c.2542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369147.1:p.Tyr848="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828884748",
      "coordinates": [
        {
          "allele": "T",
          "end": 2775,
          "referenceAllele": "T",
          "start": 2774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382219.1:c.2434T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369148.1:p.Tyr812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828885149",
      "coordinates": [
        {
          "allele": "T",
          "end": 2742,
          "referenceAllele": "T",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382220.1:c.2401T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369149.1:p.Tyr801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828885555",
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "T",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382221.1:c.2398T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369150.1:p.Tyr800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828885954",
      "coordinates": [
        {
          "allele": "T",
          "end": 2736,
          "referenceAllele": "T",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382222.1:c.2395T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369151.1:p.Tyr799="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722190"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828886342",
      "coordinates": [
        {
          "allele": "T",
          "end": 2691,
          "referenceAllele": "T",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_001382223.1:c.2350T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369152.1:p.Tyr784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829708903",
      "coordinates": [
        {
          "allele": "T",
          "end": 2883,
          "referenceAllele": "T",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NM_012470.4:c.2542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_036602.1:p.Tyr848="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265388.10:c.2542T="
          },
          "RefSeq": {
            "hgvs": "NM_012470.4:c.2542T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265388.5:p.Tyr848="
          },
          "RefSeq": {
            "hgvs": "NP_036602.1:p.Tyr848="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3044,
          "referenceAllele": "T",
          "start": 3043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_034053.3:n.3044T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3131,
          "referenceAllele": "T",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167911.1:n.3131T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2989,
          "referenceAllele": "T",
          "start": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167912.1:n.2989T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2791,
          "referenceAllele": "T",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167913.1:n.2791T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2951,
          "referenceAllele": "T",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167914.1:n.2951T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3207,
          "referenceAllele": "T",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167915.1:n.3207T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2681,
          "referenceAllele": "T",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167916.1:n.2681T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "T",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167917.1:n.2714T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3169,
          "referenceAllele": "T",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167918.1:n.3169T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3008,
          "referenceAllele": "T",
          "start": 3007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167919.1:n.3008T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2967,
          "referenceAllele": "T",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167920.1:n.2967T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3169,
          "referenceAllele": "T",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167921.1:n.3169T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3005,
          "referenceAllele": "T",
          "start": 3004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167922.1:n.3005T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2806,
          "referenceAllele": "T",
          "start": 2805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167923.1:n.2806T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2883,
          "referenceAllele": "T",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167924.1:n.2883T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2806,
          "referenceAllele": "T",
          "start": 2805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167925.1:n.2806T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2817,
          "referenceAllele": "T",
          "start": 2816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167926.1:n.2817T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3110,
          "referenceAllele": "T",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017103",
      "geneNCBI_id": 23534,
      "geneSymbol": "TNPO3",
      "hgvs": [
        "NR_167927.1:n.3110T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731848"
    }
  ],
  "type": "nucleotide"
}