{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3432534",
  "communityStandardTitle": [
    "NM_022464.5(SIL1):c.645+15C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=896042[alleleid]",
        "alleleId": 896042,
        "preferredName": "NM_022464.5(SIL1):c.645+15C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/905155",
        "RCV": [
          "RCV001153509"
        ],
        "variationId": 905155
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-138362475-G-A",
        "id": "5-138362475-G-A",
        "variant": "5:138362475 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.138362475G>A?assembly=hg19",
        "id": "chr5:g.138362475G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.139026786G>A?assembly=hg38",
        "id": "chr5:g.139026786G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376395729",
        "rs": 376395729
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-138362475-G-A?dataset=gnomad_r2_1",
        "id": "5-138362475-G-A",
        "variant": "5:138362475 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-139026786-G-A?dataset=gnomad_r4",
        "id": "5-139026786-G-A",
        "variant": "5:139026786 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 139026786,
          "referenceAllele": "G",
          "start": 139026785
        }
      ],
      "hgvs": [
        "NC_000005.10:g.139026786G>A",
        "CM000667.2:g.139026786G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138362475,
          "referenceAllele": "G",
          "start": 138362474
        }
      ],
      "hgvs": [
        "NC_000005.9:g.138362475G>A",
        "CM000667.1:g.138362475G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138390374,
          "referenceAllele": "G",
          "start": 138390373
        }
      ],
      "hgvs": [
        "NC_000005.8:g.138390374G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176591,
          "referenceAllele": "C",
          "start": 176590
        }
      ],
      "hgvs": [
        "NG_008112.1:g.176591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176591,
          "referenceAllele": "C",
          "start": 176590
        }
      ],
      "hgvs": [
        "NG_008112.2:g.176591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.7:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753314",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.645+15C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.645+15C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:n.645+15C>T"
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:n.645+15C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 791,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000265195.9:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265195.5:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 785,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.6:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000503732.1:n.472+15C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "endIntronDirection": "-",
          "endIntronOffset": 5493,
          "referenceAllele": "C",
          "start": 63,
          "startIntronDirection": "-",
          "startIntronOffset": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000505945.1:c.64-5494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425136.1:n.64-5494C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 879,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000509534.5:c.666+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426858.1:n.666+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 851,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 851,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.1:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 763,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.4:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 888,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.1:c.675+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:n.675+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 888,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.2:c.675+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:n.675+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 788,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_024446164.1:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301932.1:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.5:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.645+15C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.645+15C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:n.645+15C>T"
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:n.645+15C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 15,
          "referenceAllele": "C",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.2:c.645+15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:n.645+15C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675860"
    }
  ],
  "type": "nucleotide"
}