{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA219278",
  "communityStandardTitle": [
    "NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5050577",
        "active": true,
        "id": "COSM5050577"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34150[alleleid]",
        "alleleId": 34150,
        "preferredName": "NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21298",
        "RCV": [
          "RCV000059118",
          "RCV000288403"
        ],
        "variationId": 21298
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118895925-C-T",
        "id": "11-118895925-C-T",
        "variant": "11:118895925 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118895925C>T?assembly=hg19",
        "id": "chr11:g.118895925C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119025215C>T?assembly=hg38",
        "id": "chr11:g.119025215C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356492",
        "rs": 80356492
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118895925-C-T?dataset=gnomad_r2_1",
        "id": "11-118895925-C-T",
        "variant": "11:118895925 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119025215-C-T?dataset=gnomad_r3",
        "id": "11-119025215-C-T",
        "variant": "11:119025215 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119025215-C-T?dataset=gnomad_r4",
        "id": "11-119025215-C-T",
        "variant": "11:119025215 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119025215,
          "referenceAllele": "C",
          "start": 119025214
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119025215C>T",
        "CM000673.2:g.119025215C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118895925,
          "referenceAllele": "C",
          "start": 118895924
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118895925C>T",
        "CM000673.1:g.118895925C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118401135,
          "referenceAllele": "C",
          "start": 118401134
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118401135C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10691,
          "referenceAllele": "G",
          "start": 10690
        }
      ],
      "hgvs": [
        "NG_013331.1:g.10691G>A",
        "LRG_187:g.10691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.6:n.1309G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697845.1:n.2298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697846.1:n.1671G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697847.1:n.1382G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3775,
          "referenceAllele": "G",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697849.1:n.3775G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1966,
          "referenceAllele": "G",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697850.1:n.1966G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2937,
          "referenceAllele": "G",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000697851.1:n.2937G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "G",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638186.1:n.1403G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638360.1:n.1235G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000638925.1:n.1368G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000650539.1:n.1571G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000330775.9:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476242.2:p.Ala367Thr",
        "hgvsWellDefined": "ENSP00000476242.2:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000357590.9:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476176.2:p.Ala389Thr",
        "hgvsWellDefined": "ENSP00000476176.2:p.Ala389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000524428.5:n.1335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525039.5:n.1589G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "G",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525102.5:n.1857G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000525372.5:n.1197G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000526275.5:n.1881G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000527992.5:n.1327G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000529510.5:n.787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000530407.5:n.1249G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5117,
          "referenceAllele": "G",
          "start": 5116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000532085.1:n.5117G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019943",
      "geneNCBI_id": 51399,
      "geneSymbol": "TRAPPC4",
      "hgvs": [
        "ENST00000533058.5:c.*166C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432920.1:n.*166C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000538950.5:c.880G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475991.2:p.Ala294Thr",
        "hgvsWellDefined": "ENSP00000475991.2:p.Ala294Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "ENST00000545985.5:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475241.2:p.Ala367Thr",
        "hgvsWellDefined": "ENSP00000475241.2:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219280",
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.1:c.1099G>A",
        "LRG_187t1:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001157749.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988080",
      "coordinates": [
        {
          "allele": "A",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Ala389Thr",
        "hgvsWellDefined": "NP_001157750.1:p.Ala389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972263",
      "coordinates": [
        {
          "allele": "A",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.1:c.880G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Ala294Thr",
        "hgvsWellDefined": "NP_001157751.1:p.Ala294Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972846",
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.1:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001157752.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219281",
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.5:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001458.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988080",
      "coordinates": [
        {
          "allele": "A",
          "end": 1577,
          "referenceAllele": "G",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164278.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157750.1:p.Ala389Thr",
        "hgvsWellDefined": "NP_001157750.1:p.Ala389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972263",
      "coordinates": [
        {
          "allele": "A",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164279.2:c.880G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157751.1:p.Ala294Thr",
        "hgvsWellDefined": "NP_001157751.1:p.Ala294Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825972846",
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001157752.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219281",
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001458.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA219280",
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164277.2:c.1099G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157749.1:p.Ala367Thr",
        "hgvsWellDefined": "NP_001157749.1:p.Ala367Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.1099G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001164277.2:c.1099G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:p.Ala367Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001157749.1:p.Ala367Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}