{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2317700483",
  "communityStandardTitle": [
    "NM_000156.6(GAMT):c.1A= (p.Met1=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052527",
        "rs": 796052527
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401476,
          "referenceAllele": "T",
          "start": 1401475
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1401476T=",
        "CM000681.2:g.1401476T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401475,
          "referenceAllele": "T",
          "start": 1401474
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1401475T=",
        "CM000681.1:g.1401475T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1352475,
          "referenceAllele": "T",
          "start": 1352474
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1352475T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5078,
          "referenceAllele": "A",
          "start": 5077
        }
      ],
      "hgvs": [
        "NG_009785.1:g.5078A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001640"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67,
          "referenceAllele": "A",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000252288.8:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252288.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252288.8:c.1A="
          },
          "RefSeq": {
            "hgvs": "NM_000156.6:c.1A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252288.1:p.Met1="
          },
          "RefSeq": {
            "hgvs": "NP_000147.1:p.Met1="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "referenceAllele": "A",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000447102.8:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403536.2:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19,
          "referenceAllele": "A",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000640762.1:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492031.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68,
          "referenceAllele": "A",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000252288.6:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252288.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "referenceAllele": "A",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "ENST00000447102.7:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403536.2:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086510576",
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "referenceAllele": "A",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_000156.5:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000147.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "referenceAllele": "A",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_138924.2:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_620279.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086510576",
      "coordinates": [
        {
          "allele": "A",
          "end": 67,
          "referenceAllele": "A",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_000156.6:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000147.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674731",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252288.8:c.1A="
          },
          "RefSeq": {
            "hgvs": "NM_000156.6:c.1A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252288.1:p.Met1="
          },
          "RefSeq": {
            "hgvs": "NP_000147.1:p.Met1="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67,
          "referenceAllele": "A",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NM_138924.3:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_620279.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699802"
    }
  ],
  "type": "nucleotide"
}