{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137041923",
  "communityStandardTitle": [
    "NM_002124.4(HLA-DRB1):c.118C>A (p.Pro40Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32552138G>T?assembly=hg19",
        "id": "chr6:g.32552138G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32584361G>T?assembly=hg38",
        "id": "chr6:g.32584361G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9269955",
        "rs": 9269955
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32584361-G-T?dataset=gnomad_r3",
        "id": "6-32584361-G-T",
        "variant": "6:32584361 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32584361-G-T?dataset=gnomad_r4",
        "id": "6-32584361-G-T",
        "variant": "6:32584361 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32584361,
          "referenceAllele": "G",
          "start": 32584360
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32584361G>T",
        "CM000668.2:g.32584361G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32552138,
          "referenceAllele": "G",
          "start": 32552137
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32552138G>T",
        "CM000668.1:g.32552138G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32660116,
          "referenceAllele": "G",
          "start": 32660115
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32660116G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000360004.6:c.118C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353099.5:p.Pro40Thr",
        "hgvsWellDefined": "ENSP00000353099.5:p.Pro40Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360004.6:c.118C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002124.4:c.118C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353099.5:p.Pro40Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002115.2:p.Pro40Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000696610.1:c.*23C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512754.1:n.*23C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "referenceAllele": "C",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000696611.1:n.41C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000696612.1:n.181C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "C",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000696613.1:n.96C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000696614.1:n.246C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000360004.5:c.118C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353099.5:p.Pro40Thr",
        "hgvsWellDefined": "ENSP00000353099.5:p.Pro40Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "ENST00000611060.4:c.118C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480667.1:p.Pro40Thr",
        "hgvsWellDefined": "ENSP00000480667.1:p.Pro40Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072130462",
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "NM_002124.3:c.118C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002115.2:p.Pro40Thr",
        "hgvsWellDefined": "NP_002115.2:p.Pro40Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072130462",
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "C",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004948",
      "geneNCBI_id": 3123,
      "geneSymbol": "HLA-DRB1",
      "hgvs": [
        "NM_002124.4:c.118C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002115.2:p.Pro40Thr",
        "hgvsWellDefined": "NP_002115.2:p.Pro40Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727246",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360004.6:c.118C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002124.4:c.118C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353099.5:p.Pro40Thr"
          },
          "RefSeq": {
            "hgvs": "NP_002115.2:p.Pro40Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}