{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343046",
  "communityStandardTitle": [
    "NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46962[alleleid]",
        "alleleId": 46962,
        "preferredName": "NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38403",
        "RCV": [
          "RCV000031955"
        ],
        "variationId": 38403
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.41383720C>T?assembly=hg19",
        "id": "chr13:g.41383720C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.40809584C>T?assembly=hg38",
        "id": "chr13:g.40809584C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202247807",
        "rs": 202247807
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-41383720-C-T?dataset=gnomad_r2_1",
        "id": "13-41383720-C-T",
        "variant": "13:41383720 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-40809584-C-T?dataset=gnomad_r3",
        "id": "13-40809584-C-T",
        "variant": "13:40809584 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-40809584-C-T?dataset=gnomad_r4",
        "id": "13-40809584-C-T",
        "variant": "13:40809584 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 40809584,
          "referenceAllele": "C",
          "start": 40809583
        }
      ],
      "hgvs": [
        "NC_000013.11:g.40809584C>T",
        "CM000675.2:g.40809584C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 41383720,
          "referenceAllele": "C",
          "start": 41383719
        }
      ],
      "hgvs": [
        "NC_000013.10:g.41383720C>T",
        "CM000675.1:g.41383720C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 40281720,
          "referenceAllele": "C",
          "start": 40281719
        }
      ],
      "hgvs": [
        "NC_000013.9:g.40281720C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25174,
          "referenceAllele": "C",
          "start": 25173
        }
      ],
      "hgvs": [
        "NG_012248.1:g.25174C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002316"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "C",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010985",
      "geneNCBI_id": 10166,
      "geneSymbol": "SLC25A15",
      "hgvs": [
        "ENST00000707033.1:c.823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516711.1:p.Arg275Ter",
        "hgvsWellDefined": "ENSP00000516711.1:p.Arg275_Tyr301delinsAlaPheProAlaAsnGlyAlaLeuPheLeuAlaTyrGluTyrSerArgLysLeuMetMetAsnGlnLeuGluAlaTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010985",
      "geneNCBI_id": 10166,
      "geneSymbol": "SLC25A15",
      "hgvs": [
        "ENST00000338625.9:c.823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342267.4:p.Arg275Ter",
        "hgvsWellDefined": "ENSP00000342267.4:p.Arg275_Tyr301delinsAlaPheProAlaAsnGlyAlaLeuPheLeuAlaTyrGluTyrSerArgLysLeuMetMetAsnGlnLeuGluAlaTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338625.9:c.823C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014252.4:c.823C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342267.4:p.Arg275Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055067.1:p.Arg275Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010985",
      "geneNCBI_id": 10166,
      "geneSymbol": "SLC25A15",
      "hgvs": [
        "ENST00000338625.8:c.823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342267.4:p.Arg275Ter",
        "hgvsWellDefined": "ENSP00000342267.4:p.Arg275_Tyr301delinsAlaPheProAlaAsnGlyAlaLeuPheLeuAlaTyrGluTyrSerArgLysLeuMetMetAsnGlnLeuGluAlaTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343047",
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010985",
      "geneNCBI_id": 10166,
      "geneSymbol": "SLC25A15",
      "hgvs": [
        "NM_014252.3:c.823C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055067.1:p.Arg275Ter",
        "hgvsWellDefined": "NP_055067.1:p.Arg275_Tyr301delinsAlaPheProAlaAsnGlyAlaLeuPheLeuAlaTyrGluTyrSerArgLysLeuMetMetAsnGlnLeuGluAlaTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "endIntronDirection": "-",
          "endIntronOffset": 8859,
          "referenceAllele": "G",
          "start": 622,
          "startIntronDirection": "-",
          "startIntronOffset": 8860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042356",
      "geneNCBI_id": 100616668,
      "geneSymbol": "TPTE2P5",
      "hgvs": [
        "NR_038258.1:n.623-8860G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "endIntronDirection": "-",
          "endIntronOffset": 8859,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "-",
          "startIntronOffset": 8860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042356",
      "geneNCBI_id": 100616668,
      "geneSymbol": "TPTE2P5",
      "hgvs": [
        "NR_038259.1:n.452-8860G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343047",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010985",
      "geneNCBI_id": 10166,
      "geneSymbol": "SLC25A15",
      "hgvs": [
        "NM_014252.4:c.823C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055067.1:p.Arg275Ter",
        "hgvsWellDefined": "NP_055067.1:p.Arg275_Tyr301delinsAlaPheProAlaAsnGlyAlaLeuPheLeuAlaTyrGluTyrSerArgLysLeuMetMetAsnGlnLeuGluAlaTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338625.9:c.823C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014252.4:c.823C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342267.4:p.Arg275Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055067.1:p.Arg275Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}