{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276416582",
  "communityStandardTitle": [
    "NM_000558.5(HBA1):c.91G>C (p.Glu31Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.226806G>C?assembly=hg19",
        "id": "chr16:g.226806G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.176807G>C?assembly=hg38",
        "id": "chr16:g.176807G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33993166",
        "rs": 33993166
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-226806-G-C?dataset=gnomad_r2_1",
        "id": "16-226806-G-C",
        "variant": "16:226806 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 176807,
          "referenceAllele": "G",
          "start": 176806
        }
      ],
      "hgvs": [
        "NC_000016.10:g.176807G>C",
        "CM000678.2:g.176807G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 226806,
          "referenceAllele": "G",
          "start": 226805
        }
      ],
      "hgvs": [
        "NC_000016.9:g.226806G>C",
        "CM000678.1:g.226806G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 166806,
          "referenceAllele": "G",
          "start": 166805
        }
      ],
      "hgvs": [
        "NC_000016.8:g.166806G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 37670,
          "referenceAllele": "G",
          "start": 37669
        }
      ],
      "hgvs": [
        "NG_000006.1:g.37670G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5157,
          "referenceAllele": "G",
          "start": 5156
        }
      ],
      "hgvs": [
        "NG_059186.1:g.5157G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000320868.9:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322421.5:p.Glu31Gln",
        "hgvsWellDefined": "ENSP00000322421.5:p.Glu31Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.91G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.91G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Glu31Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Glu31Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000397797.1:c.-2+45G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380899.1:n.-2+45G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110,
          "referenceAllele": "G",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000472694.1:n.110G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "ENST00000487791.1:n.60G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082807388",
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.4:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Glu31Gln",
        "hgvsWellDefined": "NP_000549.1:p.Glu31Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082807388",
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NM_000558.5:c.91G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000549.1:p.Glu31Gln",
        "hgvsWellDefined": "NP_000549.1:p.Glu31Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510815",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320868.9:c.91G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000558.5:c.91G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322421.5:p.Glu31Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000549.1:p.Glu31Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}