{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8319842",
  "communityStandardTitle": [
    "NM_017986.4(SLC52A1):c.218C>T (p.Pro73Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4067853",
        "active": true,
        "id": "COSM4067853"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1374637[alleleid]",
        "alleleId": 1374637,
        "preferredName": "NM_017986.4(SLC52A1):c.218C>T (p.Pro73Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1388016",
        "RCV": [
          "RCV001884359"
        ],
        "variationId": 1388016
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-4937566-G-A",
        "id": "17-4937566-G-A",
        "variant": "17:4937566 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.4937566G>A?assembly=hg19",
        "id": "chr17:g.4937566G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.5034271G>A?assembly=hg38",
        "id": "chr17:g.5034271G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137937212",
        "rs": 137937212
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-4937566-G-A?dataset=gnomad_r2_1",
        "id": "17-4937566-G-A",
        "variant": "17:4937566 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-5034271-G-A?dataset=gnomad_r3",
        "id": "17-5034271-G-A",
        "variant": "17:5034271 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-5034271-G-A?dataset=gnomad_r4",
        "id": "17-5034271-G-A",
        "variant": "17:5034271 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 5034271,
          "referenceAllele": "G",
          "start": 5034270
        }
      ],
      "hgvs": [
        "NC_000017.11:g.5034271G>A",
        "CM000679.2:g.5034271G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 4937566,
          "referenceAllele": "G",
          "start": 4937565
        }
      ],
      "hgvs": [
        "NC_000017.10:g.4937566G>A",
        "CM000679.1:g.4937566G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 4878290,
          "referenceAllele": "G",
          "start": 4878289
        }
      ],
      "hgvs": [
        "NC_000017.9:g.4878290G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6162,
          "referenceAllele": "C",
          "start": 6161
        }
      ],
      "hgvs": [
        "NG_033117.1:g.6162C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005442"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "ENST00000254853.10:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254853.5:p.Pro73Leu",
        "hgvsWellDefined": "ENSP00000254853.5:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254853.10:c.218C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017986.4:c.218C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254853.5:p.Pro73Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060456.3:p.Pro73Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "C",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "ENST00000512825.7:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443026.1:p.Pro73Leu",
        "hgvsWellDefined": "ENSP00000443026.1:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "ENST00000254853.9:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254853.5:p.Pro73Leu",
        "hgvsWellDefined": "ENSP00000254853.5:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "ENST00000424747.1:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399979.1:p.Pro73Leu",
        "hgvsWellDefined": "ENSP00000399979.1:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "C",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "ENST00000512825.6:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443026.1:p.Pro73Leu",
        "hgvsWellDefined": "ENSP00000443026.1:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "ENST00000573674.1:n.1007C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "ENST00000575919.1:n.921C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825549465",
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "NM_001104577.1:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098047.1:p.Pro73Leu",
        "hgvsWellDefined": "NP_001098047.1:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011045"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573271410",
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "NM_017986.3:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060456.3:p.Pro73Leu",
        "hgvsWellDefined": "NP_060456.3:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "XM_011523951.1:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522253.1:p.Pro73Leu",
        "hgvsWellDefined": "XP_011522253.1:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 2602,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 2601
        }
      ],
      "hgvs": [
        "XR_934176.1:n.339+2602G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "XM_011523951.2:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522253.1:p.Pro73Leu",
        "hgvsWellDefined": "XP_011522253.1:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 2602,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 2601
        }
      ],
      "hgvs": [
        "XR_002958101.1:n.339+2602G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573271410",
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "NM_017986.4:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060456.3:p.Pro73Leu",
        "hgvsWellDefined": "NP_060456.3:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254853.10:c.218C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017986.4:c.218C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254853.5:p.Pro73Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060456.3:p.Pro73Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825549465",
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030225",
      "geneNCBI_id": 55065,
      "geneSymbol": "SLC52A1",
      "hgvs": [
        "NM_001104577.2:c.218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098047.1:p.Pro73Leu",
        "hgvsWellDefined": "NP_001098047.1:p.Pro73Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712059"
    }
  ],
  "type": "nucleotide"
}