{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2174048504",
  "communityStandardTitle": [
    "NC_000015.10:g.45380831T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1346268",
        "rs": 1346268
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45380831,
          "referenceAllele": "T",
          "start": 45380830
        }
      ],
      "hgvs": [
        "NC_000015.10:g.45380831T>A",
        "CM000677.2:g.45380831T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45673029,
          "referenceAllele": "T",
          "start": 45673028
        }
      ],
      "hgvs": [
        "NC_000015.9:g.45673029T>A",
        "CM000677.1:g.45673029T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43460321,
          "referenceAllele": "T",
          "start": 43460320
        }
      ],
      "hgvs": [
        "NC_000015.8:g.43460321T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2952,
          "referenceAllele": "A",
          "start": 2951
        }
      ],
      "hgvs": [
        "NG_011674.1:g.2952A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26487,
          "referenceAllele": "A",
          "start": 26486
        }
      ],
      "hgvs": [
        "NG_011674.2:g.26487A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616145"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "endIntronDirection": "-",
          "endIntronOffset": 271,
          "referenceAllele": "A",
          "start": 640,
          "startIntronDirection": "-",
          "startIntronOffset": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000458245.5:n.641-272A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 271,
          "referenceAllele": "A",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000527933.2:n.513-272A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 4011,
          "referenceAllele": "A",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000560538.1:n.339-4012A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "endIntronDirection": "-",
          "endIntronOffset": 4011,
          "referenceAllele": "A",
          "start": 491,
          "startIntronDirection": "-",
          "startIntronOffset": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "ENST00000561148.5:c.-318-4012A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453860.1:n.-318-4012A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 261,
          "referenceAllele": "A",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "XM_011521450.1:c.32-262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519752.1:n.32-262A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50,
          "endIntronDirection": "-",
          "endIntronOffset": 271,
          "referenceAllele": "A",
          "start": 50,
          "startIntronDirection": "-",
          "startIntronOffset": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "XM_011521451.1:c.36-272A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519753.1:n.36-272A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 271,
          "referenceAllele": "A",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "NM_001321015.1:c.-394-272A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307944.1:n.-394-272A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 271,
          "referenceAllele": "A",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004175",
      "geneNCBI_id": 2628,
      "geneSymbol": "GATM",
      "hgvs": [
        "NM_001321015.2:c.-394-272A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307944.1:n.-394-272A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685146"
    }
  ],
  "type": "nucleotide"
}