{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214746",
  "communityStandardTitle": [
    "NM_006895.3(HNMT):c.314C>T (p.Thr105Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20199[alleleid]",
        "alleleId": 20199,
        "preferredName": "NM_006895.3(HNMT):c.314C>T (p.Thr105Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5160",
        "RCV": [
          "RCV000005467",
          "RCV003974798"
        ],
        "variationId": 5160
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-138759649-C-T",
        "id": "2-138759649-C-T",
        "variant": "2:138759649 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.138759649C>T?assembly=hg19",
        "id": "chr2:g.138759649C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.138002079C>T?assembly=hg38",
        "id": "chr2:g.138002079C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11558538",
        "rs": 11558538
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-138759649-C-T?dataset=gnomad_r2_1",
        "id": "2-138759649-C-T",
        "variant": "2:138759649 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-138002079-C-T?dataset=gnomad_r3",
        "id": "2-138002079-C-T",
        "variant": "2:138002079 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-138002079-C-T?dataset=gnomad_r4",
        "id": "2-138002079-C-T",
        "variant": "2:138002079 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 138002079,
          "referenceAllele": "C",
          "start": 138002078
        }
      ],
      "hgvs": [
        "NC_000002.12:g.138002079C>T",
        "CM000664.2:g.138002079C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 138759649,
          "referenceAllele": "C",
          "start": 138759648
        }
      ],
      "hgvs": [
        "NC_000002.11:g.138759649C>T",
        "CM000664.1:g.138759649C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 138476119,
          "referenceAllele": "C",
          "start": 138476118
        }
      ],
      "hgvs": [
        "NC_000002.10:g.138476119C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42842,
          "referenceAllele": "C",
          "start": 42841
        }
      ],
      "hgvs": [
        "NG_012966.1:g.42842C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000280097.5:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280097.3:p.Thr105Ile",
        "hgvsWellDefined": "ENSP00000280097.3:p.Thr105Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280097.5:c.314C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006895.3:c.314C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280097.3:p.Thr105Ile"
          },
          "RefSeq": {
            "hgvs": "NP_008826.1:p.Thr105Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000280097.4:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280097.3:p.Thr105Ile",
        "hgvsWellDefined": "ENSP00000280097.3:p.Thr105Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000410115.5:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386940.1:p.Thr105Ile",
        "hgvsWellDefined": "ENSP00000386940.1:p.Thr105Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000467390.5:n.326C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000485653.1:n.246C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214747",
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "C",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_006895.2:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008826.1:p.Thr105Ile",
        "hgvsWellDefined": "NP_008826.1:p.Thr105Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511063.1:c.212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509365.1:p.Thr71Ile",
        "hgvsWellDefined": "XP_011509365.1:p.Thr71Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511064.1:c.-65C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509366.1:n.-65C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511064.2:c.-65C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509366.1:n.-65C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_017003948.1:c.212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859437.1:p.Thr71Ile",
        "hgvsWellDefined": "XP_016859437.1:p.Thr71Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_017003949.2:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859438.1:p.Thr105Ile",
        "hgvsWellDefined": "XP_016859438.1:p.Thr105Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "endIntronDirection": "+",
          "endIntronOffset": 4910,
          "referenceAllele": "G",
          "start": 1039,
          "startIntronDirection": "+",
          "startIntronOffset": 4909
        }
      ],
      "hgvs": [
        "XR_001739719.1:n.1039+4910G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XR_002959286.1:n.701C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214747",
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_006895.3:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008826.1:p.Thr105Ile",
        "hgvsWellDefined": "NP_008826.1:p.Thr105Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280097.5:c.314C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006895.3:c.314C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280097.3:p.Thr105Ile"
          },
          "RefSeq": {
            "hgvs": "NP_008826.1:p.Thr105Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}