{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA155213",
  "communityStandardTitle": [
    "NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135765[alleleid]",
        "alleleId": 135765,
        "preferredName": "NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/130318",
        "RCV": [
          "RCV000118356",
          "RCV000313965",
          "RCV000406183",
          "RCV000890751"
        ],
        "variationId": 130318
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-169438025-A-G",
        "id": "1-169438025-A-G",
        "variant": "1:169438025 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169438025A>G?assembly=hg19",
        "id": "chr1:g.169438025A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169468787A>G?assembly=hg38",
        "id": "chr1:g.169468787A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3737682",
        "rs": 3737682
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169438025-A-G?dataset=gnomad_r2_1",
        "id": "1-169438025-A-G",
        "variant": "1:169438025 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169468787-A-G?dataset=gnomad_r3",
        "id": "1-169468787-A-G",
        "variant": "1:169468787 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-169468787-A-G?dataset=gnomad_r4",
        "id": "1-169468787-A-G",
        "variant": "1:169468787 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169468787,
          "referenceAllele": "A",
          "start": 169468786
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169468787A>G",
        "CM000663.2:g.169468787A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169438025,
          "referenceAllele": "A",
          "start": 169438024
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169438025A>G",
        "CM000663.1:g.169438025A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 167704649,
          "referenceAllele": "A",
          "start": 167704648
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167704649A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22184,
          "referenceAllele": "T",
          "start": 22183
        }
      ],
      "hgvs": [
        "NG_008255.1:g.22184T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000981"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "T",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000236137.10:c.1080T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236137.5:p.Thr360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236137.10:c.1080T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006996.3:c.1080T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236137.5:p.Thr360="
          },
          "RefSeq": {
            "hgvs": "NP_008927.1:p.Thr360="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 411,
          "referenceAllele": "T",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000643377.1:n.411T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1205,
          "endIntronDirection": "-",
          "endIntronOffset": 49,
          "referenceAllele": "T",
          "start": 1205,
          "startIntronDirection": "-",
          "startIntronOffset": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000646596.1:c.1031-50T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494404.1:n.1031-50T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000236137.9:c.1080T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236137.5:p.Thr360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 642,
          "referenceAllele": "T",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000367804.4:c.477T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356778.3:p.Thr159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829682856",
      "coordinates": [
        {
          "allele": "C",
          "end": 1284,
          "referenceAllele": "T",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_006996.2:c.1080T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008927.1:p.Thr360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 903,
          "referenceAllele": "T",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "XM_011509076.1:c.888T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507378.1:p.Thr296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "referenceAllele": "T",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "XM_011509077.1:c.477T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507379.1:p.Thr159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827036893",
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "referenceAllele": "T",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_001319667.1:c.477T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306596.1:p.Thr159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829682856",
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "T",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_006996.3:c.1080T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008927.1:p.Thr360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236137.10:c.1080T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006996.3:c.1080T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236137.5:p.Thr360="
          },
          "RefSeq": {
            "hgvs": "NP_008927.1:p.Thr360="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}