{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2232967452",
  "communityStandardTitle": [
    "NM_024306.5(FA2H):c.460C= (p.Arg154=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907040",
        "rs": 387907040
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 74727290,
          "referenceAllele": "G",
          "start": 74727289
        }
      ],
      "hgvs": [
        "NC_000016.10:g.74727290G=",
        "CM000678.2:g.74727290G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 74761188,
          "referenceAllele": "G",
          "start": 74761187
        }
      ],
      "hgvs": [
        "NC_000016.9:g.74761188G=",
        "CM000678.1:g.74761188G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 73318689,
          "referenceAllele": "G",
          "start": 73318688
        }
      ],
      "hgvs": [
        "NC_000016.8:g.73318689G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52542,
          "referenceAllele": "C",
          "start": 52541
        }
      ],
      "hgvs": [
        "NG_017070.1:g.52542C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "ENST00000219368.8:c.460C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219368.3:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219368.8:c.460C="
          },
          "RefSeq": {
            "hgvs": "NM_024306.5:c.460C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219368.3:p.Arg154="
          },
          "RefSeq": {
            "hgvs": "NP_077282.3:p.Arg154="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "ENST00000219368.7:c.460C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219368.3:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "endIntronDirection": "-",
          "endIntronOffset": 8129,
          "referenceAllele": "C",
          "start": 439,
          "startIntronDirection": "-",
          "startIntronOffset": 8130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "ENST00000567683.5:c.364-8130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455126.1:n.364-8130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "ENST00000569949.1:c.262C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464576.1:p.Arg88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082920594",
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NM_024306.4:c.460C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077282.3:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523317.1:c.460C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521619.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523318.1:c.460C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521620.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523319.1:c.220C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521621.1:p.Arg74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523317.3:c.460C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521619.1:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "referenceAllele": "C",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "XM_011523319.2:c.220C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521621.1:p.Arg74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082920594",
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NM_024306.5:c.460C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077282.3:p.Arg154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670625",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219368.8:c.460C="
          },
          "RefSeq": {
            "hgvs": "NM_024306.5:c.460C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219368.3:p.Arg154="
          },
          "RefSeq": {
            "hgvs": "NP_077282.3:p.Arg154="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}