{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1474779995",
  "communityStandardTitle": [
    "NM_016323.4(HERC5):c.2454A= (p.Gln818=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10516809",
        "rs": 10516809
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 88499935,
          "referenceAllele": "A",
          "start": 88499934
        }
      ],
      "hgvs": [
        "NC_000004.12:g.88499935A=",
        "CM000666.2:g.88499935A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 89421086,
          "referenceAllele": "A",
          "start": 89421085
        }
      ],
      "hgvs": [
        "NC_000004.11:g.89421086A=",
        "CM000666.1:g.89421086A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 89640109,
          "referenceAllele": "A",
          "start": 89640108
        }
      ],
      "hgvs": [
        "NC_000004.10:g.89640109A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2605,
          "referenceAllele": "A",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "ENST00000264350.8:c.2454A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264350.3:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264350.8:c.2454A="
          },
          "RefSeq": {
            "hgvs": "NM_016323.4:c.2454A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264350.3:p.Gln818="
          },
          "RefSeq": {
            "hgvs": "NP_057407.2:p.Gln818="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2607,
          "referenceAllele": "A",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "ENST00000264350.7:c.2454A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264350.3:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "A",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "ENST00000502913.1:n.1175A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "A",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "ENST00000508159.1:c.1368A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424129.1:p.Gln456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "A",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "ENST00000510223.5:n.1942A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875387",
      "coordinates": [
        {
          "allele": "A",
          "end": 2607,
          "referenceAllele": "A",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "NM_016323.3:c.2454A="
      ],
      "proteinEffect": {
        "hgvs": "NP_057407.2:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2379,
          "referenceAllele": "A",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "XM_011532022.1:c.2229A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530324.1:p.Gln743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2402,
          "referenceAllele": "A",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "XM_011532023.1:c.2166A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530325.1:p.Gln722="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2895,
          "referenceAllele": "A",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "XM_011532022.2:c.2682A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530324.2:p.Gln894="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875387",
      "coordinates": [
        {
          "allele": "A",
          "end": 2605,
          "referenceAllele": "A",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024368",
      "geneNCBI_id": 51191,
      "geneSymbol": "HERC5",
      "hgvs": [
        "NM_016323.4:c.2454A="
      ],
      "proteinEffect": {
        "hgvs": "NP_057407.2:p.Gln818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669092",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264350.8:c.2454A="
          },
          "RefSeq": {
            "hgvs": "NM_016323.4:c.2454A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264350.3:p.Gln818="
          },
          "RefSeq": {
            "hgvs": "NP_057407.2:p.Gln818="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}