{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1339330919",
  "communityStandardTitle": [
    "NM_000030.3(AGXT):c.166-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177177",
        "rs": 180177177
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 240869169,
          "referenceAllele": "G",
          "start": 240869168
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240869169G=",
        "CM000664.2:g.240869169G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241808586,
          "referenceAllele": "G",
          "start": 241808585
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241808586G=",
        "CM000664.1:g.241808586G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241457259,
          "referenceAllele": "G",
          "start": 241457258
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241457259G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5425,
          "referenceAllele": "G",
          "start": 5424
        }
      ],
      "hgvs": [
        "NG_008005.1:g.5425G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000769"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.4:c.166-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:n.166-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.166-1G="
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.166-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:n.166-1G="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:n.166-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 552,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.3:c.166-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:n.166-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000472436.1:n.186-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 286,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 286,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.2:c.166-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:n.166-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "endIntronDirection": "+",
          "endIntronOffset": 1064,
          "referenceAllele": "C",
          "start": 405,
          "startIntronDirection": "+",
          "startIntronOffset": 1063
        }
      ],
      "hgvs": [
        "XR_924060.1:n.405+1064C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.3:c.166-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:n.166-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.166-1G="
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.166-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:n.166-1G="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:n.166-1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}