{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1339332124",
  "communityStandardTitle": [
    "NM_000030.3(AGXT):c.508G= (p.Gly170=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908529",
        "rs": 121908529
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 240871433,
          "referenceAllele": "G",
          "start": 240871432
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240871433G=",
        "CM000664.2:g.240871433G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241810850,
          "referenceAllele": "G",
          "start": 241810849
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241810850G=",
        "CM000664.1:g.241810850G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 241459523,
          "referenceAllele": "G",
          "start": 241459522
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241459523G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7689,
          "referenceAllele": "G",
          "start": 7688
        }
      ],
      "hgvs": [
        "NG_008005.1:g.7689G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000769"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.4:c.508G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Gly170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.508G="
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.508G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Gly170="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Gly170="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.3:c.508G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Gly170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000472436.1:n.528G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000476698.1:n.245G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007642",
      "coordinates": [
        {
          "allele": "G",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.2:c.508G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Gly170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825007642",
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.3:c.508G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Gly170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.508G="
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.508G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Gly170="
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Gly170="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}