{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA364719452",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.95-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3399459[alleleid]",
        "alleleId": 3399459,
        "preferredName": "NM_012434.5(SLC17A5):c.95-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3240472",
        "RCV": [
          "RCV004573603"
        ],
        "variationId": 3240472
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.74354327C>A?assembly=hg19",
        "id": "chr6:g.74354327C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.73644604C>A?assembly=hg38",
        "id": "chr6:g.73644604C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833995",
        "rs": 386833995
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-73644604-C-A?dataset=gnomad_r4",
        "id": "6-73644604-C-A",
        "variant": "6:73644604 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 73644604,
          "referenceAllele": "C",
          "start": 73644603
        }
      ],
      "hgvs": [
        "NC_000006.12:g.73644604C>A",
        "CM000668.2:g.73644604C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 74354327,
          "referenceAllele": "C",
          "start": 74354326
        }
      ],
      "hgvs": [
        "NC_000006.11:g.74354327C>A",
        "CM000668.1:g.74354327C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 74411048,
          "referenceAllele": "C",
          "start": 74411047
        }
      ],
      "hgvs": [
        "NC_000006.10:g.74411048C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14411,
          "referenceAllele": "G",
          "start": 14410
        }
      ],
      "hgvs": [
        "NG_008272.1:g.14411G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.6:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.95-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.95-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:n.95-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:n.95-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 363,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.5:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.4:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 232,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248710.2:c.44-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248767.1:n.44-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 476,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248711.1:c.-104-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248768.1:n.-104-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535750.1:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534052.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535751.1:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534053.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.5:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.95-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.95-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:n.95-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:n.95-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 2679,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.61-2680G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:n.61-2680G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.116-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:n.116-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.95-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:n.95-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 2679,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.61-2680G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:n.61-2680G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}