{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9724664",
  "communityStandardTitle": [
    "NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=939059[alleleid]",
        "alleleId": 939059,
        "preferredName": "NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934011",
        "RCV": [
          "RCV001202337",
          "RCV001586041",
          "RCV002375128"
        ],
        "variationId": 934011
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-744350-C-T",
        "id": "20-744350-C-T",
        "variant": "20:744350 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.744350C>T?assembly=hg19",
        "id": "chr20:g.744350C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.763706C>T?assembly=hg38",
        "id": "chr20:g.763706C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142265627",
        "rs": 142265627
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-744350-C-T?dataset=gnomad_r2_1",
        "id": "20-744350-C-T",
        "variant": "20:744350 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-763706-C-T?dataset=gnomad_r3",
        "id": "20-763706-C-T",
        "variant": "20:763706 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-763706-C-T?dataset=gnomad_r4",
        "id": "20-763706-C-T",
        "variant": "20:763706 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 763706,
          "referenceAllele": "C",
          "start": 763705
        }
      ],
      "hgvs": [
        "NC_000020.11:g.763706C>T",
        "CM000682.2:g.763706C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 744350,
          "referenceAllele": "C",
          "start": 744349
        }
      ],
      "hgvs": [
        "NC_000020.10:g.744350C>T",
        "CM000682.1:g.744350C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 692350,
          "referenceAllele": "C",
          "start": 692349
        }
      ],
      "hgvs": [
        "NC_000020.9:g.692350C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9879,
          "referenceAllele": "G",
          "start": 9878
        }
      ],
      "hgvs": [
        "NG_027687.1:g.9879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17280,
          "referenceAllele": "G",
          "start": 17279
        }
      ],
      "hgvs": [
        "NG_027687.2:g.17280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706132"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000381944.5:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371370.3:p.Glu289Lys",
        "hgvsWellDefined": "ENSP00000371370.3:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "endIntronDirection": "+",
          "endIntronOffset": 1502,
          "referenceAllele": "G",
          "start": 618,
          "startIntronDirection": "+",
          "startIntronOffset": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000473664.2:c.567+1502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502741.1:n.567+1502G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000488495.3:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494009.1:p.Glu289Lys",
        "hgvsWellDefined": "ENSP00000494009.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000645534.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494193.1:p.Glu289Lys",
        "hgvsWellDefined": "ENSP00000494193.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.865G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.865G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Glu289Lys"
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Glu289Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000675066.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501902.1:p.Glu289Lys",
        "hgvsWellDefined": "ENSP00000501902.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000217254.11:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217254.7:p.Glu289Lys",
        "hgvsWellDefined": "ENSP00000217254.7:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000381944.4:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371370.3:p.Glu289Lys",
        "hgvsWellDefined": "ENSP00000371370.3:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "endIntronDirection": "+",
          "endIntronOffset": 1502,
          "referenceAllele": "G",
          "start": 618,
          "startIntronDirection": "+",
          "startIntronOffset": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000473664.1:n.618+1502G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000632431.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488723.1:p.Glu289Lys",
        "hgvsWellDefined": "ENSP00000488723.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139748327",
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.3:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Glu289Lys",
        "hgvsWellDefined": "NP_212134.3:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.3:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Glu289Lys",
        "hgvsWellDefined": "XP_005260712.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "G",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_011529148.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527450.1:p.Glu289Lys",
        "hgvsWellDefined": "XP_011527450.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.4:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Glu289Lys",
        "hgvsWellDefined": "XP_005260712.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_024451821.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307589.1:p.Glu289Lys",
        "hgvsWellDefined": "XP_024307589.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139748327",
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.4:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Glu289Lys",
        "hgvsWellDefined": "NP_212134.3:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.865G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.865G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Glu289Lys"
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Glu289Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828374989",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370085.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357014.1:p.Glu289Lys",
        "hgvsWellDefined": "NP_001357014.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828375343",
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "G",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370086.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357015.1:p.Glu289Lys",
        "hgvsWellDefined": "NP_001357015.1:p.Glu289Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692110"
    }
  ],
  "type": "nucleotide"
}