{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343110320",
  "communityStandardTitle": [
    "NM_006996.3(SLC19A2):c.515G>C (p.Gly172Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169446685C>G?assembly=hg19",
        "id": "chr1:g.169446685C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.169477447C>G?assembly=hg38",
        "id": "chr1:g.169477447C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937595",
        "rs": 28937595
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169477447,
          "referenceAllele": "C",
          "start": 169477446
        }
      ],
      "hgvs": [
        "NC_000001.11:g.169477447C>G",
        "CM000663.2:g.169477447C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 169446685,
          "referenceAllele": "C",
          "start": 169446684
        }
      ],
      "hgvs": [
        "NC_000001.10:g.169446685C>G",
        "CM000663.1:g.169446685C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 167713309,
          "referenceAllele": "C",
          "start": 167713308
        }
      ],
      "hgvs": [
        "NC_000001.9:g.167713309C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13524,
          "referenceAllele": "G",
          "start": 13523
        }
      ],
      "hgvs": [
        "NG_008255.1:g.13524G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000981"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000236137.10:c.515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236137.5:p.Gly172Ala",
        "hgvsWellDefined": "ENSP00000236137.5:p.Gly172Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236137.10:c.515G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006996.3:c.515G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236137.5:p.Gly172Ala"
          },
          "RefSeq": {
            "hgvs": "NP_008927.1:p.Gly172Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000646596.1:c.515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494404.1:p.Gly172Ala",
        "hgvsWellDefined": "ENSP00000494404.1:p.Gly172Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000236137.9:c.515G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236137.5:p.Gly172Ala",
        "hgvsWellDefined": "ENSP00000236137.5:p.Gly172Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 7260,
          "referenceAllele": "G",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 7261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "ENST00000367804.4:c.205-7261G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356778.3:n.205-7261G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063888725",
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_006996.2:c.515G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008927.1:p.Gly172Ala",
        "hgvsWellDefined": "NP_008927.1:p.Gly172Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "XM_011509076.1:c.323G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507378.1:p.Gly108Ala",
        "hgvsWellDefined": "XP_011507378.1:p.Gly108Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 7260,
          "referenceAllele": "G",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 7261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "XM_011509077.1:c.205-7261G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507379.1:n.205-7261G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 7260,
          "referenceAllele": "G",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 7261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_001319667.1:c.205-7261G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306596.1:n.205-7261G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063888725",
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010938",
      "geneNCBI_id": 10560,
      "geneSymbol": "SLC19A2",
      "hgvs": [
        "NM_006996.3:c.515G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008927.1:p.Gly172Ala",
        "hgvsWellDefined": "NP_008927.1:p.Gly172Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236137.10:c.515G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006996.3:c.515G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236137.5:p.Gly172Ala"
          },
          "RefSeq": {
            "hgvs": "NP_008927.1:p.Gly172Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}