{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA170593",
  "communityStandardTitle": [
    "NM_004493.3(HSD17B10):c.257A>G (p.Asp86Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153772[alleleid]",
        "alleleId": 153772,
        "preferredName": "NM_004493.3(HSD17B10):c.257A>G (p.Asp86Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/144033",
        "RCV": [
          "RCV000133540"
        ],
        "variationId": 144033
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.53459295T>C?assembly=hg19",
        "id": "chrX:g.53459295T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.53432347T>C?assembly=hg38",
        "id": "chrX:g.53432347T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777651",
        "rs": 587777651
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 53432347,
          "referenceAllele": "T",
          "start": 53432346
        }
      ],
      "hgvs": [
        "NC_000023.11:g.53432347T>C",
        "CM000685.2:g.53432347T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 53459295,
          "referenceAllele": "T",
          "start": 53459294
        }
      ],
      "hgvs": [
        "NC_000023.10:g.53459295T>C",
        "CM000685.1:g.53459295T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 53476020,
          "referenceAllele": "T",
          "start": 53476019
        }
      ],
      "hgvs": [
        "NC_000023.9:g.53476020T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7029,
          "referenceAllele": "A",
          "start": 7028
        }
      ],
      "hgvs": [
        "NG_008153.1:g.7029A>G",
        "LRG_450:g.7029A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14493,
          "referenceAllele": "T",
          "start": 14492
        }
      ],
      "hgvs": [
        "NG_033076.2:g.14493T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005408"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000495986.2:n.401A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1592,
          "referenceAllele": "A",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000682365.1:n.1592A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "referenceAllele": "A",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000684251.1:n.101A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "A",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000684503.1:n.422A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000684692.1:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506792.1:p.Asp86Gly",
        "hgvsWellDefined": "ENSP00000506792.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "referenceAllele": "A",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000168216.11:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000168216.6:p.Asp86Gly",
        "hgvsWellDefined": "ENSP00000168216.6:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000168216.11:c.257A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004493.3:c.257A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000168216.6:p.Asp86Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004484.1:p.Asp86Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "referenceAllele": "A",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000168216.10:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000168216.6:p.Asp86Gly",
        "hgvsWellDefined": "ENSP00000168216.6:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 262,
          "referenceAllele": "A",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000375298.4:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364447.4:p.Asp86Gly",
        "hgvsWellDefined": "ENSP00000364447.4:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000375304.9:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364453.5:p.Asp86Gly",
        "hgvsWellDefined": "ENSP00000364453.5:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "ENST00000495986.1:n.389A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170596",
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "NM_001037811.2:c.257A>G",
        "LRG_450t2:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032900.1:p.Asp86Gly",
        "hgvsWellDefined": "NP_001032900.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170597",
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "NM_004493.2:c.257A>G",
        "LRG_450t1:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004484.1:p.Asp86Gly",
        "hgvsWellDefined": "NP_004484.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170597",
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "referenceAllele": "A",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004800",
      "geneNCBI_id": 3028,
      "geneSymbol": "HSD17B10",
      "hgvs": [
        "NM_004493.3:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004484.1:p.Asp86Gly",
        "hgvsWellDefined": "NP_004484.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696158",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000168216.11:c.257A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004493.3:c.257A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000168216.6:p.Asp86Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004484.1:p.Asp86Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}