{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253271",
  "communityStandardTitle": [
    "NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6281892",
        "active": true,
        "id": "COSM6281892"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19778[alleleid]",
        "alleleId": 19778,
        "preferredName": "NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4739",
        "RCV": [
          "RCV000005005"
        ],
        "variationId": 4739
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.45827791C>T?assembly=hg19",
        "id": "chr11:g.45827791C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.45806240C>T?assembly=hg38",
        "id": "chr11:g.45806240C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28939087",
        "rs": 28939087
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-45806240-C-T?dataset=gnomad_r4",
        "id": "11-45806240-C-T",
        "variant": "11:45806240 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 45806240,
          "referenceAllele": "C",
          "start": 45806239
        }
      ],
      "hgvs": [
        "NC_000011.10:g.45806240C>T",
        "CM000673.2:g.45806240C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 45827791,
          "referenceAllele": "C",
          "start": 45827790
        }
      ],
      "hgvs": [
        "NC_000011.9:g.45827791C>T",
        "CM000673.1:g.45827791C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 45784367,
          "referenceAllele": "C",
          "start": 45784366
        }
      ],
      "hgvs": [
        "NC_000011.8:g.45784367C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7169,
          "referenceAllele": "C",
          "start": 7168
        }
      ],
      "hgvs": [
        "NG_009875.1:g.7169C>T",
        "LRG_107:g.7169C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001681"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "ENST00000526817.2:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432145.2:p.Arg134Cys",
        "hgvsWellDefined": "ENSP00000432145.2:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "ENST00000314134.4:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313318.3:p.Arg147Cys",
        "hgvsWellDefined": "ENSP00000313318.3:p.Arg147Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314134.4:c.439C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018389.5:c.439C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313318.3:p.Arg147Cys"
          },
          "RefSeq": {
            "hgvs": "NP_060859.4:p.Arg147Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "ENST00000314134.3:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313318.3:p.Arg147Cys",
        "hgvsWellDefined": "ENSP00000313318.3:p.Arg147Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "ENST00000442528.2:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412408.2:p.Arg134Cys",
        "hgvsWellDefined": "ENSP00000412408.2:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "ENST00000530471.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432669.1:p.Arg134Cys",
        "hgvsWellDefined": "ENSP00000432669.1:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825884503",
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "NM_001145265.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138737.1:p.Arg134Cys",
        "hgvsWellDefined": "NP_001138737.1:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825884707",
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "C",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "NM_001145266.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138738.1:p.Arg134Cys",
        "hgvsWellDefined": "NP_001138738.1:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103436",
      "coordinates": [
        {
          "allele": "T",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "NM_018389.4:c.439C>T",
        "LRG_107t1:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060859.4:p.Arg147Cys",
        "hgvsWellDefined": "NP_060859.4:p.Arg147Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "XM_011520203.1:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518505.1:p.Arg147Cys",
        "hgvsWellDefined": "XP_011518505.1:p.Arg147Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "XM_011520203.3:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518505.1:p.Arg147Cys",
        "hgvsWellDefined": "XP_011518505.1:p.Arg147Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545624"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825884503",
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "NM_001145265.2:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138737.1:p.Arg134Cys",
        "hgvsWellDefined": "NP_001138737.1:p.Arg134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103436",
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020197",
      "geneNCBI_id": 55343,
      "geneSymbol": "SLC35C1",
      "hgvs": [
        "NM_018389.5:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060859.4:p.Arg147Cys",
        "hgvsWellDefined": "NP_060859.4:p.Arg147Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698032",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314134.4:c.439C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018389.5:c.439C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313318.3:p.Arg147Cys"
          },
          "RefSeq": {
            "hgvs": "NP_060859.4:p.Arg147Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}