{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1291858409",
  "communityStandardTitle": [
    "NM_006895.3(HNMT):c.*60A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1050891",
        "rs": 1050891
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 138014190,
          "referenceAllele": "A",
          "start": 138014189
        }
      ],
      "hgvs": [
        "NC_000002.12:g.138014190A=",
        "CM000664.2:g.138014190A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 138771760,
          "referenceAllele": "A",
          "start": 138771759
        }
      ],
      "hgvs": [
        "NC_000002.11:g.138771760A=",
        "CM000664.1:g.138771760A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 138488230,
          "referenceAllele": "A",
          "start": 138488229
        }
      ],
      "hgvs": [
        "NC_000002.10:g.138488230A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54953,
          "referenceAllele": "A",
          "start": 54952
        }
      ],
      "hgvs": [
        "NG_012966.1:g.54953A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000280097.5:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280097.3:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743550",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280097.5:c.*60A="
          },
          "RefSeq": {
            "hgvs": "NM_006895.3:c.*60A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280097.3:n.*60A="
          },
          "RefSeq": {
            "hgvs": "NP_008826.1:n.*60A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1121,
          "referenceAllele": "A",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000280097.4:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280097.3:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "ENST00000410115.5:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386940.1:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1193,
          "referenceAllele": "A",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_006895.2:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "NP_008826.1:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "A",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511063.1:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509365.1:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "A",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511064.1:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509366.1:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "referenceAllele": "A",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_011511064.2:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509366.1:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1653,
          "referenceAllele": "A",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XM_017003948.1:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016859437.1:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "endIntronDirection": "-",
          "endIntronOffset": 6393,
          "referenceAllele": "T",
          "start": 231,
          "startIntronDirection": "-",
          "startIntronOffset": 6394
        }
      ],
      "hgvs": [
        "XR_001739719.1:n.232-6394T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "A",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "XR_002959286.1:n.1326A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "A",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NM_006895.3:c.*60A="
      ],
      "proteinEffect": {
        "hgvs": "NP_008826.1:n.*60A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280097.5:c.*60A="
          },
          "RefSeq": {
            "hgvs": "NM_006895.3:c.*60A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280097.3:n.*60A="
          },
          "RefSeq": {
            "hgvs": "NP_008826.1:n.*60A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}