{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA125825",
  "communityStandardTitle": [
    "NM_000558.5(HBA1):c.163C>G (p.Gln55Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30821[alleleid]",
        "alleleId": 30821,
        "preferredName": "NM_000558.5(HBA1):c.163C>G (p.Gln55Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15782",
        "RCV": [
          "RCV000017111",
          "RCV000017113",
          "RCV000017110",
          "RCV000017112",
          "RCV000017109",
          "RCV001800309"
        ],
        "variationId": 15782
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.226995C>G?assembly=hg19",
        "id": "chr16:g.226995C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.176996C>G?assembly=hg38",
        "id": "chr16:g.176996C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35317336",
        "rs": 35317336
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 176996,
          "referenceAllele": "C",
          "start": 176995
        }
      ],
      "hgvs": [
        "NC_000016.10:g.176996C>G",
        "CM000678.2:g.176996C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 226995,
          "referenceAllele": "C",
          "start": 226994
        }
      ],
      "hgvs": [
        "NC_000016.9:g.226995C>G",
        "CM000678.1:g.226995C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 166995,
          "referenceAllele": "C",
          "start": 166994
        }
      ],
      "hgvs": [
        "NC_000016.8:g.166995C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37859,
          "referenceAllele": "C",
          "start": 37858
        }
      ],
      "hgvs": [
        "NG_000006.1:g.37859C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5346,
          "referenceAllele": "C",
          "start": 5345
        }
      ],
      "hgvs": [
        "NG_059186.1:g.5346C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000320868.9:c.163C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322421.5:p.Gln55Glu",
        "hgvsWellDefined": "ENSP00000322421.5:p.Gln55Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.163C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.163C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Gln55Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Gln55Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000397797.1:c.67C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380899.1:p.Gln23Glu",
        "hgvsWellDefined": "ENSP00000380899.1:p.Gln23Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000472694.1:n.299C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000487791.1:n.132C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125826",
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "referenceAllele": "C",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.4:c.163C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Gln55Glu",
        "hgvsWellDefined": "NP_000549.1:p.Gln55Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA125826",
      "coordinates": [
        {
          "allele": "G",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.5:c.163C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Gln55Glu",
        "hgvsWellDefined": "NP_000549.1:p.Gln55Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.163C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.163C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Gln55Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Gln55Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}