{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1590995846",
  "communityStandardTitle": [
    "NM_001543.5(NDST1):c.1782C= (p.Ile594=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1755252201",
        "rs": 1755252201
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 150541602,
          "referenceAllele": "C",
          "start": 150541601
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150541602C=",
        "CM000667.2:g.150541602C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149921164,
          "referenceAllele": "C",
          "start": 149921163
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149921164C=",
        "CM000667.1:g.149921164C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 149901357,
          "referenceAllele": "C",
          "start": 149901356
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149901357C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48825,
          "referenceAllele": "C",
          "start": 48824
        }
      ],
      "hgvs": [
        "NG_041806.1:g.48825C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005876"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2265,
          "referenceAllele": "C",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "ENST00000261797.7:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261797.6:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261797.7:c.1782C="
          },
          "RefSeq": {
            "hgvs": "NM_001543.5:c.1782C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261797.6:p.Ile594="
          },
          "RefSeq": {
            "hgvs": "NP_001534.1:p.Ile594="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "ENST00000261797.6:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261797.6:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "ENST00000523767.5:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428604.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "NM_001301063.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287992.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071751395",
      "coordinates": [
        {
          "allele": "C",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "NM_001543.4:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001534.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2256,
          "referenceAllele": "C",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268433.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268490.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2368,
          "referenceAllele": "C",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268434.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268491.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "C",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268435.3:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268492.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2249,
          "referenceAllele": "C",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268436.2:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268493.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2267,
          "referenceAllele": "C",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268437.3:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268494.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2256,
          "referenceAllele": "C",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268438.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268495.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2256,
          "referenceAllele": "C",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268439.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268496.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268442.2:c.510C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268499.1:p.Ile170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_006714782.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714845.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2256,
          "referenceAllele": "C",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_006714783.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714846.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_011537638.1:c.795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535940.1:p.Ile265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2260,
          "referenceAllele": "C",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XR_245854.1:n.2260C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2865,
          "referenceAllele": "C",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268434.2:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268491.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2390,
          "referenceAllele": "C",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268435.4:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268492.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4030,
          "referenceAllele": "C",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268436.3:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268493.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2216,
          "referenceAllele": "C",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268437.5:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268494.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_005268442.4:c.510C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005268499.1:p.Ile170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "referenceAllele": "C",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_006714782.2:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714845.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "C",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_011537638.2:c.795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535940.1:p.Ile265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5247,
          "referenceAllele": "C",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_017009427.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864916.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_017009428.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864917.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2216,
          "referenceAllele": "C",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_017009429.2:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864918.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "referenceAllele": "C",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_017009430.2:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864919.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "C",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_017009431.1:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864920.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4042,
          "referenceAllele": "C",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_017009432.1:c.795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864921.1:p.Ile265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563755"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4040,
          "referenceAllele": "C",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XM_017009433.1:c.795C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864922.1:p.Ile265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XR_001742060.2:n.2290C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2879,
          "referenceAllele": "C",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XR_001742061.1:n.2879C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2260,
          "referenceAllele": "C",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "XR_245854.2:n.2260C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071751395",
      "coordinates": [
        {
          "allele": "C",
          "end": 2265,
          "referenceAllele": "C",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "NM_001543.5:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001534.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665035",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261797.7:c.1782C="
          },
          "RefSeq": {
            "hgvs": "NM_001543.5:c.1782C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261797.6:p.Ile594="
          },
          "RefSeq": {
            "hgvs": "NP_001534.1:p.Ile594="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2370,
          "referenceAllele": "C",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007680",
      "geneNCBI_id": 3340,
      "geneSymbol": "NDST1",
      "hgvs": [
        "NM_001301063.2:c.1782C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287992.1:p.Ile594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683331"
    }
  ],
  "type": "nucleotide"
}