{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1362234556",
  "communityStandardTitle": [
    "NM_147196.3(TMIE):c.241C= (p.Arg81=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28942096",
        "rs": 28942096
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46709155,
          "referenceAllele": "C",
          "start": 46709154
        }
      ],
      "hgvs": [
        "NC_000003.12:g.46709155C=",
        "CM000665.2:g.46709155C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46750645,
          "referenceAllele": "C",
          "start": 46750644
        }
      ],
      "hgvs": [
        "NC_000003.11:g.46750645C=",
        "CM000665.1:g.46750645C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 46725649,
          "referenceAllele": "C",
          "start": 46725648
        }
      ],
      "hgvs": [
        "NC_000003.10:g.46725649C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12823,
          "referenceAllele": "C",
          "start": 12822
        }
      ],
      "hgvs": [
        "NG_011628.1:g.12823C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001863"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "referenceAllele": "C",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "ENST00000643606.3:c.241C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494576.2:p.Arg81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767371",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643606.3:c.241C="
          },
          "RefSeq": {
            "hgvs": "NM_147196.3:c.241C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494576.2:p.Arg81="
          },
          "RefSeq": {
            "hgvs": "NP_671729.2:p.Arg81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 239,
          "referenceAllele": "C",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "ENST00000644830.1:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495111.1:p.Arg28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "ENST00000651652.1:c.139C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498953.1:p.Arg47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "ENST00000326431.3:c.241C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324775.3:p.Arg81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068374219",
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "NM_147196.2:c.241C="
      ],
      "proteinEffect": {
        "hgvs": "NP_671729.2:p.Arg81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041627"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "XM_006713097.2:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713160.1:p.Arg28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "XM_011533574.1:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531876.1:p.Arg28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "XM_006713097.4:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713160.1:p.Arg28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "XM_024453446.1:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309214.1:p.Arg28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "NM_001370524.1:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357453.1:p.Arg28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "NM_001370525.1:c.82C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357454.1:p.Arg28="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692525"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068374219",
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "referenceAllele": "C",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030800",
      "geneNCBI_id": 259236,
      "geneSymbol": "TMIE",
      "hgvs": [
        "NM_147196.3:c.241C="
      ],
      "proteinEffect": {
        "hgvs": "NP_671729.2:p.Arg81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700089",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643606.3:c.241C="
          },
          "RefSeq": {
            "hgvs": "NM_147196.3:c.241C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494576.2:p.Arg81="
          },
          "RefSeq": {
            "hgvs": "NP_671729.2:p.Arg81="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}