{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3432664",
  "communityStandardTitle": [
    "NM_022464.5(SIL1):c.192C>T (p.Ala64=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4992250"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301381[alleleid]",
        "alleleId": 301381,
        "preferredName": "NM_022464.5(SIL1):c.192C>T (p.Ala64=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351099",
        "RCV": [
          "RCV000275283",
          "RCV003437117"
        ],
        "variationId": 351099
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-138456776-G-A",
        "id": "5-138456776-G-A",
        "variant": "5:138456776 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.138456776G>A?assembly=hg19",
        "id": "chr5:g.138456776G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.139121087G>A?assembly=hg38",
        "id": "chr5:g.139121087G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148651377",
        "rs": 148651377
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-138456776-G-A?dataset=gnomad_r2_1",
        "id": "5-138456776-G-A",
        "variant": "5:138456776 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-139121087-G-A?dataset=gnomad_r3",
        "id": "5-139121087-G-A",
        "variant": "5:139121087 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-139121087-G-A?dataset=gnomad_r4",
        "id": "5-139121087-G-A",
        "variant": "5:139121087 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 139121087,
          "referenceAllele": "G",
          "start": 139121086
        }
      ],
      "hgvs": [
        "NC_000005.10:g.139121087G>A",
        "CM000667.2:g.139121087G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138456776,
          "referenceAllele": "G",
          "start": 138456775
        }
      ],
      "hgvs": [
        "NC_000005.9:g.138456776G>A",
        "CM000667.1:g.138456776G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 138484675,
          "referenceAllele": "G",
          "start": 138484674
        }
      ],
      "hgvs": [
        "NC_000005.8:g.138484675G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82290,
          "referenceAllele": "C",
          "start": 82289
        }
      ],
      "hgvs": [
        "NG_008112.1:g.82290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82290,
          "referenceAllele": "C",
          "start": 82289
        }
      ],
      "hgvs": [
        "NG_008112.2:g.82290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.7:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753314",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.192C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.192C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:p.Ala64="
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:p.Ala64="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000265195.9:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265195.5:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000394817.6:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378294.2:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000504666.5:n.290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000505353.1:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423662.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000505830.5:c.222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426460.1:p.Ala74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000507002.5:c.222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421890.1:p.Ala74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000508639.5:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427371.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000509400.5:n.495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000509534.5:c.213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426858.1:p.Ala71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "ENST00000513453.5:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424014.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825381111",
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.1:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830000875",
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "C",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.4:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.1:c.222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:p.Ala74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_011543570.2:c.222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541872.1:p.Ala74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "XM_024446164.1:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301932.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830000875",
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "C",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_022464.5:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071909.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394817.7:c.192C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022464.5:c.192C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378294.2:p.Ala64="
          },
          "RefSeq": {
            "hgvs": "NP_071909.1:p.Ala64="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825381111",
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024624",
      "geneNCBI_id": 64374,
      "geneSymbol": "SIL1",
      "hgvs": [
        "NM_001037633.2:c.192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032722.1:p.Ala64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675860"
    }
  ],
  "type": "nucleotide"
}