{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359066534",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1771713[alleleid]",
        "alleleId": 1771713,
        "preferredName": "NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1717737",
        "RCV": [
          "RCV002454626",
          "RCV003097927"
        ],
        "variationId": 1717737
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1253869A>C?assembly=hg19",
        "id": "chr5:g.1253869A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1253754A>C?assembly=hg38",
        "id": "chr5:g.1253754A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2478065733",
        "rs": 2478065733
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253754,
          "referenceAllele": "A",
          "start": 1253753
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1253754A>C",
        "CM000667.2:g.1253754A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1253869,
          "referenceAllele": "A",
          "start": 1253868
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1253869A>C",
        "CM000667.1:g.1253869A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1306869,
          "referenceAllele": "A",
          "start": 1306868
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1306869A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46294,
          "referenceAllele": "T",
          "start": 46293
        }
      ],
      "hgvs": [
        "NG_009265.1:g.46294T>G",
        "LRG_343:g.46294T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3452,
          "referenceAllele": "T",
          "start": 3451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.3373T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Ser1125Ala",
        "hgvsWellDefined": "ENSP00000309572.5:p.Ser1125Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.3373T>G"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.3373T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Ser1125Ala"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Ser1125Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4702,
          "referenceAllele": "T",
          "start": 4701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.*2919T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:n.*2919T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3431,
          "referenceAllele": "T",
          "start": 3430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.3373T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Ser1125Ala",
        "hgvsWellDefined": "ENSP00000309572.5:p.Ser1125Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3184,
          "referenceAllele": "T",
          "start": 3183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.3184T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Ser1062Ala",
        "hgvsWellDefined": "ENSP00000334346.6:p.Ser1062Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2966,
          "referenceAllele": "T",
          "start": 2965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.2966T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:n.2966T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1815,
          "referenceAllele": "T",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000484238.6:n.1815T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826183013",
      "coordinates": [
        {
          "allele": "G",
          "end": 3242,
          "referenceAllele": "T",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.3184T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Ser1062Ala",
        "hgvsWellDefined": "NP_001180305.1:p.Ser1062Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580557216",
      "coordinates": [
        {
          "allele": "G",
          "end": 3431,
          "referenceAllele": "T",
          "start": 3430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.3373T>G",
        "LRG_343t1:c.3373T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Ser1125Ala",
        "hgvsWellDefined": "NP_937983.2:p.Ser1125Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "referenceAllele": "T",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514104.1:c.1843T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512406.1:p.Ser615Ala",
        "hgvsWellDefined": "XP_011512406.1:p.Ser615Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2321,
          "referenceAllele": "T",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514105.1:c.1729T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512407.1:p.Ser577Ala",
        "hgvsWellDefined": "XP_011512407.1:p.Ser577Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2008,
          "referenceAllele": "T",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514106.1:c.1729T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512408.1:p.Ser577Ala",
        "hgvsWellDefined": "XP_011512408.1:p.Ser577Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "endIntronDirection": "-",
          "endIntronOffset": 919,
          "referenceAllele": "A",
          "start": 286,
          "startIntronDirection": "-",
          "startIntronOffset": 920
        }
      ],
      "hgvs": [
        "XR_925683.1:n.287-920A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3060,
          "referenceAllele": "T",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.3060T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3024,
          "referenceAllele": "T",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.3024T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826183013",
      "coordinates": [
        {
          "allele": "G",
          "end": 3263,
          "referenceAllele": "T",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.3184T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Ser1062Ala",
        "hgvsWellDefined": "NP_001180305.1:p.Ser1062Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580557216",
      "coordinates": [
        {
          "allele": "G",
          "end": 3452,
          "referenceAllele": "T",
          "start": 3451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.3373T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Ser1125Ala",
        "hgvsWellDefined": "NP_937983.2:p.Ser1125Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.3373T>G"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.3373T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Ser1125Ala"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Ser1125Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3081,
          "referenceAllele": "T",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.3081T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3045,
          "referenceAllele": "T",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.3045T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826183013",
      "coordinates": [
        {
          "allele": "G",
          "end": 3263,
          "referenceAllele": "T",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.3184T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Ser1062Ala",
        "hgvsWellDefined": "NP_001180305.1:p.Ser1062Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3081,
          "referenceAllele": "T",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.3081T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3045,
          "referenceAllele": "T",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.3045T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}