{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2232982602",
  "communityStandardTitle": [
    "NM_024306.5(FA2H):c.139G= (p.Glu47=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518032",
        "rs": 1057518032
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 74774617,
          "referenceAllele": "C",
          "start": 74774616
        }
      ],
      "hgvs": [
        "NC_000016.10:g.74774617C=",
        "CM000678.2:g.74774617C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 74808515,
          "referenceAllele": "C",
          "start": 74808514
        }
      ],
      "hgvs": [
        "NC_000016.9:g.74808515C=",
        "CM000678.1:g.74808515C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 73366016,
          "referenceAllele": "C",
          "start": 73366015
        }
      ],
      "hgvs": [
        "NC_000016.8:g.73366016C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5215,
          "referenceAllele": "G",
          "start": 5214
        }
      ],
      "hgvs": [
        "NG_017070.1:g.5215G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "ENST00000219368.8:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219368.3:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219368.8:c.139G="
          },
          "RefSeq": {
            "hgvs": "NM_024306.5:c.139G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219368.3:p.Glu47="
          },
          "RefSeq": {
            "hgvs": "NP_077282.3:p.Glu47="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "G",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "ENST00000219368.7:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219368.3:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "ENST00000567683.5:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455126.1:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289550",
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NM_024306.4:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077282.3:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523317.1:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521619.1:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523318.1:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521620.1:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523317.3:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521619.1:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546989"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289550",
      "coordinates": [
        {
          "allele": "G",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NM_024306.5:c.139G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077282.3:p.Glu47="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670625",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219368.8:c.139G="
          },
          "RefSeq": {
            "hgvs": "NM_024306.5:c.139G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219368.3:p.Glu47="
          },
          "RefSeq": {
            "hgvs": "NP_077282.3:p.Glu47="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}