{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA365033336",
  "communityStandardTitle": [
    "NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513748[alleleid]",
        "alleleId": 513748,
        "preferredName": "NM_017633.3(TENT5A):c.692A>G (p.Asp231Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523123",
        "RCV": [
          "RCV000626327"
        ],
        "variationId": 523123
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.82460049T>C?assembly=hg19",
        "id": "chr6:g.82460049T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.81750332T>C?assembly=hg38",
        "id": "chr6:g.81750332T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554200371",
        "rs": 1554200371
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 81750332,
          "referenceAllele": "T",
          "start": 81750331
        }
      ],
      "hgvs": [
        "NC_000006.12:g.81750332T>C",
        "CM000668.2:g.81750332T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 82460049,
          "referenceAllele": "T",
          "start": 82460048
        }
      ],
      "hgvs": [
        "NC_000006.11:g.82460049T>C",
        "CM000668.1:g.82460049T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 82516768,
          "referenceAllele": "T",
          "start": 82516767
        }
      ],
      "hgvs": [
        "NC_000006.10:g.82516768T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7380,
          "referenceAllele": "A",
          "start": 7379
        }
      ],
      "hgvs": [
        "NG_056210.1:g.7380A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "A",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "ENST00000320172.11:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318298.6:p.Asp231Gly",
        "hgvsWellDefined": "ENSP00000318298.6:p.Asp231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320172.11:c.692A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017633.3:c.692A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318298.6:p.Asp231Gly"
          },
          "RefSeq": {
            "hgvs": "NP_060103.2:p.Asp231Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "ENST00000320172.10:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318298.6:p.Asp231Gly",
        "hgvsWellDefined": "ENSP00000318298.6:p.Asp231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "A",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "ENST00000369754.7:c.749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358769.3:p.Asp250Gly",
        "hgvsWellDefined": "ENSP00000358769.3:p.Asp250Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "ENST00000369756.3:c.935A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358771.3:p.Asp312Gly",
        "hgvsWellDefined": "ENSP00000358771.3:p.Asp312Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 1258,
          "referenceAllele": "A",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "ENST00000412306.1:c.223+1258A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164,
          "endIntronDirection": "-",
          "endIntronOffset": 270,
          "referenceAllele": "A",
          "start": 164,
          "startIntronDirection": "-",
          "startIntronOffset": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "ENST00000423467.1:c.165-271A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658816489",
      "coordinates": [
        {
          "allele": "G",
          "end": 1010,
          "referenceAllele": "A",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "NM_017633.2:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060103.2:p.Asp231Gly",
        "hgvsWellDefined": "NP_060103.2:p.Asp231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658816489",
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "A",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018345",
      "geneNCBI_id": 55603,
      "geneSymbol": "TENT5A",
      "hgvs": [
        "NM_017633.3:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060103.2:p.Asp231Gly",
        "hgvsWellDefined": "NP_060103.2:p.Asp231Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320172.11:c.692A>G"
          },
          "RefSeq": {
            "hgvs": "NM_017633.3:c.692A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318298.6:p.Asp231Gly"
          },
          "RefSeq": {
            "hgvs": "NP_060103.2:p.Asp231Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}