{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363893997",
  "communityStandardTitle": [
    "NM_002123.5(HLA-DQB1):c.122T>C (p.Phe41Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32632832A>G?assembly=hg19",
        "id": "chr6:g.32632832A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32665055A>G?assembly=hg38",
        "id": "chr6:g.32665055A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9274407",
        "rs": 9274407
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32665055-A-G?dataset=gnomad_r3",
        "id": "6-32665055-A-G",
        "variant": "6:32665055 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32665055-A-G?dataset=gnomad_r4",
        "id": "6-32665055-A-G",
        "variant": "6:32665055 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32665055,
          "referenceAllele": "A",
          "start": 32665054
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32665055A>G",
        "CM000668.2:g.32665055A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32632832,
          "referenceAllele": "A",
          "start": 32632831
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32632832A>G",
        "CM000668.1:g.32632832A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32740810,
          "referenceAllele": "A",
          "start": 32740809
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32740810A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "referenceAllele": "T",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000434651.7:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407332.2:p.Phe41Ser",
        "hgvsWellDefined": "ENSP00000407332.2:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824862",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000434651.7:c.122T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002123.5:c.122T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407332.2:p.Phe41Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002114.3:p.Phe41Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "referenceAllele": "T",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000374943.8:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364080.4:p.Phe41Ser",
        "hgvsWellDefined": "ENSP00000364080.4:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "T",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000399079.7:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382029.3:p.Phe41Ser",
        "hgvsWellDefined": "ENSP00000382029.3:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 1444,
          "referenceAllele": "T",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000399082.7:c.109+1444T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382032.3:n.109+1444T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "T",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000399084.5:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382034.1:p.Phe41Ser",
        "hgvsWellDefined": "ENSP00000382034.1:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "referenceAllele": "T",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000434651.6:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407332.2:p.Phe41Ser",
        "hgvsWellDefined": "ENSP00000407332.2:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "referenceAllele": "T",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000484729.2:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436686.1:p.Phe41Ser",
        "hgvsWellDefined": "ENSP00000436686.1:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "referenceAllele": "T",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "ENST00000487676.1:n.153T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "NM_001243961.1:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230890.1:p.Phe41Ser",
        "hgvsWellDefined": "NP_001230890.1:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072130499",
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "NM_002123.4:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002114.3:p.Phe41Ser",
        "hgvsWellDefined": "NP_002114.3:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "referenceAllele": "T",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "NM_001243961.2:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230890.1:p.Phe41Ser",
        "hgvsWellDefined": "NP_001230890.1:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072130499",
      "coordinates": [
        {
          "allele": "C",
          "end": 172,
          "referenceAllele": "T",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004944",
      "geneNCBI_id": 3119,
      "geneSymbol": "HLA-DQB1",
      "hgvs": [
        "NM_002123.5:c.122T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002114.3:p.Phe41Ser",
        "hgvsWellDefined": "NP_002114.3:p.Phe41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000434651.7:c.122T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002123.5:c.122T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407332.2:p.Phe41Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002114.3:p.Phe41Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}