{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1977489105",
  "communityStandardTitle": [
    "NM_014206.4(TMEM258):c.113+162A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/102275",
        "rs": 102275
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61790331,
          "referenceAllele": "T",
          "start": 61790330
        }
      ],
      "hgvs": [
        "NC_000011.10:g.61790331T=",
        "CM000673.2:g.61790331T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61557803,
          "referenceAllele": "T",
          "start": 61557802
        }
      ],
      "hgvs": [
        "NC_000011.9:g.61557803T=",
        "CM000673.1:g.61557803T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61314379,
          "referenceAllele": "T",
          "start": 61314378
        }
      ],
      "hgvs": [
        "NC_000011.8:g.61314379T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42695,
          "referenceAllele": "T",
          "start": 42694
        }
      ],
      "hgvs": [
        "NG_047038.1:g.42695T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616566"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000537328.6:c.113+162A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443216.1:n.113+162A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000537328.6:c.113+162A="
          },
          "RefSeq": {
            "hgvs": "NM_014206.4:c.113+162A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000443216.1:n.113+162A="
          },
          "RefSeq": {
            "hgvs": "NP_055021.1:n.113+162A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000257262.12:c.113+162A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257262.8:n.113+162A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000535042.1:n.111+162A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 44,
          "referenceAllele": "A",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000535297.1:c.*81+44A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437809.1:n.*81+44A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000537328.5:c.113+162A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443216.1:n.113+162A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 319,
          "referenceAllele": "A",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000540434.1:n.319A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 92,
          "referenceAllele": "A",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000541893.5:c.*33+92A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441836.1:n.*33+92A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1450,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 1450,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000543510.1:c.98+162A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443836.1:n.98+162A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267,
          "endIntronDirection": "+",
          "endIntronOffset": 44,
          "referenceAllele": "A",
          "start": 267,
          "startIntronDirection": "+",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "ENST00000545210.5:c.*81+44A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445404.1:n.*81+44A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "NM_014206.3:c.113+162A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055021.1:n.113+162A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 162,
          "referenceAllele": "A",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001164",
      "geneNCBI_id": 746,
      "geneSymbol": "TMEM258",
      "hgvs": [
        "NM_014206.4:c.113+162A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055021.1:n.113+162A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000537328.6:c.113+162A="
          },
          "RefSeq": {
            "hgvs": "NM_014206.4:c.113+162A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000443216.1:n.113+162A="
          },
          "RefSeq": {
            "hgvs": "NP_055021.1:n.113+162A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}