{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7103344",
  "communityStandardTitle": [
    "NM_022060.3(ABHD4):c.281G>A (p.Arg94His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2441666[alleleid]",
        "alleleId": 2441666,
        "preferredName": "NM_022060.3(ABHD4):c.281G>A (p.Arg94His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2470968",
        "RCV": [
          "RCV004259485"
        ],
        "variationId": 2470968
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-23072463-G-A",
        "id": "14-23072463-G-A",
        "variant": "14:23072463 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23072463G>A?assembly=hg19",
        "id": "chr14:g.23072463G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.22603558G>A?assembly=hg38",
        "id": "chr14:g.22603558G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376848256",
        "rs": 376848256
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23072463-G-A?dataset=gnomad_r2_1",
        "id": "14-23072463-G-A",
        "variant": "14:23072463 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-22603558-G-A?dataset=gnomad_r3",
        "id": "14-22603558-G-A",
        "variant": "14:22603558 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-22603558-G-A?dataset=gnomad_r4",
        "id": "14-22603558-G-A",
        "variant": "14:22603558 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 22603558,
          "referenceAllele": "G",
          "start": 22603557
        }
      ],
      "hgvs": [
        "NC_000014.9:g.22603558G>A",
        "CM000676.2:g.22603558G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 23072463,
          "referenceAllele": "G",
          "start": 23072462
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23072463G>A",
        "CM000676.1:g.23072463G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 22142303,
          "referenceAllele": "G",
          "start": 22142302
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22142303G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000428304.7:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414558.2:p.Arg94His",
        "hgvsWellDefined": "ENSP00000414558.2:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000428304.7:c.281G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022060.3:c.281G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414558.2:p.Arg94His"
          },
          "RefSeq": {
            "hgvs": "NP_071343.2:p.Arg94His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119,
          "endIntronDirection": "-",
          "endIntronOffset": 29,
          "referenceAllele": "G",
          "start": 119,
          "startIntronDirection": "-",
          "startIntronOffset": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000216327.10:c.113-30G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216327.7:n.113-30G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000418446.6:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388751.2:p.Arg94His",
        "hgvsWellDefined": "ENSP00000388751.2:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000428304.6:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414558.2:p.Arg94His",
        "hgvsWellDefined": "ENSP00000414558.2:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "G",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000537243.5:c.220-43G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438332.1:n.220-43G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000539344.1:n.288G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 101,
          "referenceAllele": "G",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000541962.1:c.157+101G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000542041.1:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437385.1:p.Arg70His",
        "hgvsWellDefined": "ENSP00000437385.1:p.Arg70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "ENST00000544562.5:n.294G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580447133",
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "NM_022060.2:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071343.2:p.Arg94His",
        "hgvsWellDefined": "NP_071343.2:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "XM_005267986.3:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268043.1:p.Arg70His",
        "hgvsWellDefined": "XP_005268043.1:p.Arg70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "XR_245712.3:n.290G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "XM_005267986.4:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268043.1:p.Arg70His",
        "hgvsWellDefined": "XP_005268043.1:p.Arg70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "G",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "XR_001750499.1:n.403G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "XR_245712.4:n.290G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829193068",
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "NM_001392009.1:c.209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001378938.1:p.Arg70His",
        "hgvsWellDefined": "NP_001378938.1:p.Arg70His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580447133",
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "NM_022060.3:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071343.2:p.Arg94His",
        "hgvsWellDefined": "NP_071343.2:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728561",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000428304.7:c.281G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022060.3:c.281G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000414558.2:p.Arg94His"
          },
          "RefSeq": {
            "hgvs": "NP_071343.2:p.Arg94His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "NR_171624.1:n.288G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "NR_171625.1:n.288G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 53,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020154",
      "geneNCBI_id": 63874,
      "geneSymbol": "ABHD4",
      "hgvs": [
        "NR_171626.1:n.227-54G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733020"
    }
  ],
  "type": "nucleotide"
}