{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2429833665",
  "communityStandardTitle": [
    "NM_004493.3(HSD17B10):c.745G= (p.Glu249=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62626305",
        "rs": 62626305
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 53431445,
          "referenceAllele": "C",
          "start": 53431444
        }
      ],
      "hgvs": [
        "NC_000023.11:g.53431445C=",
        "CM000685.2:g.53431445C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 53458393,
          "referenceAllele": "C",
          "start": 53458392
        }
      ],
      "hgvs": [
        "NC_000023.10:g.53458393C=",
        "CM000685.1:g.53458393C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 53475118,
          "referenceAllele": "C",
          "start": 53475117
        }
      ],
      "hgvs": [
        "NC_000023.9:g.53475118C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7931,
          "referenceAllele": "G",
          "start": 7930
        }
      ],
      "hgvs": [
        "NG_008153.1:g.7931G=",
        "LRG_450:g.7931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13591,
          "referenceAllele": "C",
          "start": 13590
        }
      ],
      "hgvs": [
        "NG_033076.2:g.13591C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005408"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000495986.2:n.862G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2494,
          "referenceAllele": "G",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000682365.1:n.2494G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000684251.1:n.873G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000684692.1:c.*294G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506792.1:n.*294G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000168216.11:c.745G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000168216.6:p.Glu249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000168216.11:c.745G="
          },
          "RefSeq": {
            "hgvs": "NM_004493.3:c.745G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000168216.6:p.Glu249="
          },
          "RefSeq": {
            "hgvs": "NP_004484.1:p.Glu249="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000168216.10:c.745G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000168216.6:p.Glu249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000375298.4:c.*126G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364447.4:n.*126G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000375304.9:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364453.5:p.Glu240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000477706.1:n.369G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "NM_001037811.2:c.718G=",
        "LRG_450t2:c.718G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001032900.1:p.Glu240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193051",
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "NM_004493.2:c.745G=",
        "LRG_450t1:c.745G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004484.1:p.Glu249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063193051",
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "NM_004493.3:c.745G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004484.1:p.Glu249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696158",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000168216.11:c.745G="
          },
          "RefSeq": {
            "hgvs": "NM_004493.3:c.745G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000168216.6:p.Glu249="
          },
          "RefSeq": {
            "hgvs": "NP_004484.1:p.Glu249="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}