{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8479591",
  "communityStandardTitle": [
    "NM_032141.4(NSRP1):c.20+302A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1211608[alleleid]",
        "alleleId": 1211608,
        "preferredName": "NM_032141.4(NSRP1):c.20+302A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1221211",
        "RCV": [
          "RCV001597400"
        ],
        "variationId": 1221211
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-28444183-A-C",
        "id": "17-28444183-A-C",
        "variant": "17:28444183 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.28444183A>C?assembly=hg19",
        "id": "chr17:g.28444183A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.30117165A>C?assembly=hg38",
        "id": "chr17:g.30117165A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6505162",
        "rs": 6505162
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-28444183-A-C?dataset=gnomad_r2_1",
        "id": "17-28444183-A-C",
        "variant": "17:28444183 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-30117165-A-C?dataset=gnomad_r3",
        "id": "17-30117165-A-C",
        "variant": "17:30117165 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-30117165-A-C?dataset=gnomad_r4",
        "id": "17-30117165-A-C",
        "variant": "17:30117165 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 30117165,
          "referenceAllele": "A",
          "start": 30117164
        }
      ],
      "hgvs": [
        "NC_000017.11:g.30117165A>C",
        "CM000679.2:g.30117165A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 28444183,
          "referenceAllele": "A",
          "start": 28444182
        }
      ],
      "hgvs": [
        "NC_000017.10:g.28444183A>C",
        "CM000679.1:g.28444183A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 25468309,
          "referenceAllele": "A",
          "start": 25468308
        }
      ],
      "hgvs": [
        "NC_000017.9:g.25468309A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 48,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000247026.10:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247026.5:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000247026.10:c.20+302A>C"
          },
          "RefSeq": {
            "hgvs": "NM_032141.4:c.20+302A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000247026.5:n.20+302A>C"
          },
          "RefSeq": {
            "hgvs": "NP_115517.1:n.20+302A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000247026.9:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247026.5:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 44,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000394826.8:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378303.4:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12,
          "referenceAllele": "A",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000467446.6:n.12A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "A",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000475652.5:c.21-137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464569.1:n.21-137A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316884"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "A",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000479218.6:c.21-137A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466640.1:n.21-137A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000540900.7:n.321+302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 45,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000577289.6:n.45+302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 25,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000583301.5:n.25+302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 45,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000584154.5:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462820.1:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 34,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000584317.5:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463722.1:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 83,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000584423.5:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464237.1:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 174,
          "referenceAllele": "A",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000585881.5:c.-216A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465442.1:n.-216A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 57,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "ENST00000612959.4:c.-49+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477862.1:n.-49+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 57,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "NM_001261467.1:c.-49+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248396.1:n.-49+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 57,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "NM_032141.3:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115517.1:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 87,
          "referenceAllele": "A",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031880",
      "geneNCBI_id": 494335,
      "geneSymbol": "MIR423",
      "hgvs": [
        "NR_029945.1:n.87A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "A",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "XM_011525345.1:c.21-137A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523647.1:n.21-137A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 682,
          "endIntronDirection": "+",
          "endIntronOffset": 227,
          "referenceAllele": "T",
          "start": 682,
          "startIntronDirection": "+",
          "startIntronOffset": 226
        }
      ],
      "hgvs": [
        "XR_934651.1:n.682+227T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "A",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "XM_011525345.2:c.21-137A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523647.1:n.21-137A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 48,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "NM_032141.4:c.20+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115517.1:n.20+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000247026.10:c.20+302A>C"
          },
          "RefSeq": {
            "hgvs": "NM_032141.4:c.20+302A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000247026.5:n.20+302A>C"
          },
          "RefSeq": {
            "hgvs": "NP_115517.1:n.20+302A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "endIntronDirection": "+",
          "endIntronOffset": 302,
          "referenceAllele": "A",
          "start": 48,
          "startIntronDirection": "+",
          "startIntronOffset": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025305",
      "geneNCBI_id": 84081,
      "geneSymbol": "NSRP1",
      "hgvs": [
        "NM_001261467.2:c.-49+302A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248396.1:n.-49+302A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715033"
    }
  ],
  "type": "nucleotide"
}