{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210672",
  "communityStandardTitle": [
    "NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4463206",
        "active": true,
        "id": "COSM4463206"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214822[alleleid]",
        "alleleId": 214822,
        "preferredName": "NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218170",
        "RCV": [
          "RCV000202396",
          "RCV003955216"
        ],
        "variationId": 218170
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-6594255-G-A",
        "id": "17-6594255-G-A",
        "variant": "17:6594255 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6594255G>A?assembly=hg19",
        "id": "chr17:g.6594255G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6690936G>A?assembly=hg38",
        "id": "chr17:g.6690936G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/548065551",
        "rs": 548065551
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6594255-G-A?dataset=gnomad_r2_1",
        "id": "17-6594255-G-A",
        "variant": "17:6594255 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6690936-G-A?dataset=gnomad_r3",
        "id": "17-6690936-G-A",
        "variant": "17:6690936 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6690936-G-A?dataset=gnomad_r4",
        "id": "17-6690936-G-A",
        "variant": "17:6690936 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6690936,
          "referenceAllele": "G",
          "start": 6690935
        }
      ],
      "hgvs": [
        "NC_000017.11:g.6690936G>A",
        "CM000679.2:g.6690936G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6594255,
          "referenceAllele": "G",
          "start": 6594254
        }
      ],
      "hgvs": [
        "NC_000017.10:g.6594255G>A",
        "CM000679.1:g.6594255G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6534979,
          "referenceAllele": "G",
          "start": 6534978
        }
      ],
      "hgvs": [
        "NC_000017.9:g.6534979G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27486,
          "referenceAllele": "C",
          "start": 27485
        }
      ],
      "hgvs": [
        "NG_034220.1:g.27486C>T",
        "LRG_1020:g.27486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005810"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000433363.7:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406220.2:p.Ser427Leu",
        "hgvsWellDefined": "ENSP00000406220.2:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433363.7:c.1280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_177550.5:c.1280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406220.2:p.Ser427Leu"
          },
          "RefSeq": {
            "hgvs": "NP_808218.1:p.Ser427Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "endIntronDirection": "-",
          "endIntronOffset": 1928,
          "referenceAllele": "G",
          "start": 724,
          "startIntronDirection": "-",
          "startIntronOffset": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034494",
      "geneNCBI_id": 388327,
      "geneSymbol": "C17orf100",
      "hgvs": [
        "ENST00000635042.1:n.725-1929G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000293800.10:c.1229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293800.6:p.Ser410Leu",
        "hgvsWellDefined": "ENSP00000293800.6:p.Ser410Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000381074.8:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370464.4:p.Ser384Leu",
        "hgvsWellDefined": "ENSP00000370464.4:p.Ser384Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000433363.6:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406220.2:p.Ser427Leu",
        "hgvsWellDefined": "ENSP00000406220.2:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000572727.1:n.389C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000573648.5:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459372.1:p.Ser427Leu",
        "hgvsWellDefined": "ENSP00000459372.1:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "endIntronDirection": "+",
          "endIntronOffset": 909,
          "referenceAllele": "G",
          "start": 662,
          "startIntronDirection": "+",
          "startIntronOffset": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013742",
      "geneNCBI_id": 100652883,
      "geneSymbol": "ALOX15P1",
      "hgvs": [
        "ENST00000634558.1:n.662+909G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 264,
          "endIntronDirection": "-",
          "endIntronOffset": 1928,
          "referenceAllele": "G",
          "start": 264,
          "startIntronDirection": "-",
          "startIntronOffset": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013742",
      "geneNCBI_id": 100652883,
      "geneSymbol": "ALOX15P1",
      "hgvs": [
        "ENST00000634823.1:n.265-1929G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825858217",
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001143838.2:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137310.1:p.Ser427Leu",
        "hgvsWellDefined": "NP_001137310.1:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826692210",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284509.1:c.1229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271438.1:p.Ser410Leu",
        "hgvsWellDefined": "NP_001271438.1:p.Ser410Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826692666",
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284510.1:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271439.1:p.Ser384Leu",
        "hgvsWellDefined": "NP_001271439.1:p.Ser384Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_177550.4:c.1280C>T",
        "LRG_1020t1:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808218.1:p.Ser427Leu",
        "hgvsWellDefined": "NP_808218.1:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_006721504.2:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721567.1:p.Ser390Leu",
        "hgvsWellDefined": "XP_006721567.1:p.Ser390Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_011523795.1:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522097.1:p.Ser427Leu",
        "hgvsWellDefined": "XP_011522097.1:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_011523795.3:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522097.1:p.Ser427Leu",
        "hgvsWellDefined": "XP_011522097.1:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825858217",
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001143838.3:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137310.1:p.Ser427Leu",
        "hgvsWellDefined": "NP_001137310.1:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826692210",
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284509.2:c.1229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271438.1:p.Ser410Leu",
        "hgvsWellDefined": "NP_001271438.1:p.Ser410Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826692666",
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284510.2:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271439.1:p.Ser384Leu",
        "hgvsWellDefined": "NP_001271439.1:p.Ser384Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_177550.5:c.1280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808218.1:p.Ser427Leu",
        "hgvsWellDefined": "NP_808218.1:p.Ser427Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433363.7:c.1280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_177550.5:c.1280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406220.2:p.Ser427Leu"
          },
          "RefSeq": {
            "hgvs": "NP_808218.1:p.Ser427Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}