{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3710747",
  "communityStandardTitle": [
    "NM_002117.6(HLA-C):c.453C>G (p.Asn151Lys)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31239016-G-C",
        "id": "6-31239016-G-C",
        "variant": "6:31239016 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31239016G>C?assembly=hg19",
        "id": "chr6:g.31239016G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31271239G>C?assembly=hg38",
        "id": "chr6:g.31271239G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1050373",
        "rs": 1050373
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31239016-G-C?dataset=gnomad_r2_1",
        "id": "6-31239016-G-C",
        "variant": "6:31239016 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271239-G-C?dataset=gnomad_r3",
        "id": "6-31271239-G-C",
        "variant": "6:31271239 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31271239-G-C?dataset=gnomad_r4",
        "id": "6-31271239-G-C",
        "variant": "6:31271239 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31271239,
          "referenceAllele": "G",
          "start": 31271238
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31271239G>C",
        "CM000668.2:g.31271239G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31239016,
          "referenceAllele": "G",
          "start": 31239015
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31239016G>C",
        "CM000668.1:g.31239016G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31346995,
          "referenceAllele": "G",
          "start": 31346994
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31346995G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5893,
          "referenceAllele": "C",
          "start": 5892
        }
      ],
      "hgvs": [
        "NG_029422.2:g.5893C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004374"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.10:c.453C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Asn151Lys",
        "hgvsWellDefined": "ENSP00000365402.5:p.Asn151Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.453C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.453C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Asn151Lys"
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Asn151Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.9:c.453C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Asn151Lys",
        "hgvsWellDefined": "ENSP00000365402.5:p.Asn151Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376237.8:c.*40C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365412.4:n.*40C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000383329.7:c.453C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372819.3:p.Asn151Lys",
        "hgvsWellDefined": "ENSP00000372819.3:p.Asn151Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000415537.1:c.451C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000484378.1:n.722C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000487245.5:n.812C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000495835.1:n.642C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072125249",
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.5:c.453C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Asn151Lys",
        "hgvsWellDefined": "NP_002108.4:p.Asn151Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072125249",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.6:c.453C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Asn151Lys",
        "hgvsWellDefined": "NP_002108.4:p.Asn151Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.453C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.453C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Asn151Lys"
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Asn151Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}