{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2160049247",
  "communityStandardTitle": [
    "NM_030943.4(AMN):c.122C= (p.Thr41=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119478058",
        "rs": 119478058
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 102923789,
          "referenceAllele": "C",
          "start": 102923788
        }
      ],
      "hgvs": [
        "NC_000014.9:g.102923789C=",
        "CM000676.2:g.102923789C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 103390126,
          "referenceAllele": "C",
          "start": 103390125
        }
      ],
      "hgvs": [
        "NC_000014.8:g.103390126C=",
        "CM000676.1:g.103390126C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 102459879,
          "referenceAllele": "C",
          "start": 102459878
        }
      ],
      "hgvs": [
        "NC_000014.7:g.102459879C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6134,
          "referenceAllele": "C",
          "start": 6133
        }
      ],
      "hgvs": [
        "NG_008276.2:g.6134C=",
        "LRG_642:g.6134C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000991"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "ENST00000299155.10:c.122C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299155.6:p.Thr41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744644",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299155.10:c.122C="
          },
          "RefSeq": {
            "hgvs": "NM_030943.4:c.122C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299155.6:p.Thr41="
          },
          "RefSeq": {
            "hgvs": "NP_112205.2:p.Thr41="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "ENST00000299155.9:c.122C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299155.5:p.Thr41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "ENST00000541086.5:n.868C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830064475",
      "coordinates": [
        {
          "allele": "C",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "NM_030943.3:c.122C=",
        "LRG_642t1:c.122C="
      ],
      "proteinEffect": {
        "hgvs": "NP_112205.2:p.Thr41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "XM_011537202.1:c.-41C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535504.1:n.-41C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "XM_011537203.1:c.-41C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535505.1:n.-41C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "XM_011537202.3:c.-41C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535504.1:n.-41C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "XM_011537203.3:c.-41C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535505.1:n.-41C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "XM_024449714.1:c.218C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305482.1:p.Thr73="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830064475",
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "NM_030943.4:c.122C="
      ],
      "proteinEffect": {
        "hgvs": "NP_112205.2:p.Thr41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698904",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299155.10:c.122C="
          },
          "RefSeq": {
            "hgvs": "NM_030943.4:c.122C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299155.6:p.Thr41="
          },
          "RefSeq": {
            "hgvs": "NP_112205.2:p.Thr41="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}