{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117427",
  "communityStandardTitle": [
    "NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20392[alleleid]",
        "alleleId": 20392,
        "preferredName": "NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5353",
        "RCV": [
          "RCV000005682"
        ],
        "variationId": 5353
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-43759167-G-A",
        "id": "3-43759167-G-A",
        "variant": "3:43759167 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.43759167G>A?assembly=hg19",
        "id": "chr3:g.43759167G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.43717675G>A?assembly=hg38",
        "id": "chr3:g.43717675G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28939078",
        "rs": 28939078
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-43759167-G-A?dataset=gnomad_r2_1",
        "id": "3-43759167-G-A",
        "variant": "3:43759167 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-43717675-G-A?dataset=gnomad_r4",
        "id": "3-43717675-G-A",
        "variant": "3:43717675 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 43717675,
          "referenceAllele": "G",
          "start": 43717674
        }
      ],
      "hgvs": [
        "NC_000003.12:g.43717675G>A",
        "CM000665.2:g.43717675G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 43759167,
          "referenceAllele": "G",
          "start": 43759166
        }
      ],
      "hgvs": [
        "NC_000003.11:g.43759167G>A",
        "CM000665.1:g.43759167G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 43734171,
          "referenceAllele": "G",
          "start": 43734170
        }
      ],
      "hgvs": [
        "NC_000003.10:g.43734171G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31793,
          "referenceAllele": "G",
          "start": 31792
        }
      ],
      "hgvs": [
        "NG_007090.3:g.31793G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31806,
          "referenceAllele": "G",
          "start": 31805
        }
      ],
      "hgvs": [
        "NG_007090.5:g.31806G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616067"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "G",
          "start": 267,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000413300.2:c.268-91G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000454293.2:c.655G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412014.2:p.Glu219Lys",
        "hgvsWellDefined": "ENSP00000412014.2:p.Glu219Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 767,
          "referenceAllele": "G",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000458276.7:c.774-768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390849.3:n.774-768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5,
          "referenceAllele": "G",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000463153.2:c.5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000642351.1:c.655G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494478.1:p.Glu219Lys",
        "hgvsWellDefined": "ENSP00000494478.1:p.Glu219Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000643140.1:c.*140G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495588.1:n.*140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000643477.1:c.*239G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496220.1:n.*239G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000643500.1:c.666G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494735.1:p.Val222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000643520.1:n.944G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000644371.2:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495778.1:p.Glu260Lys",
        "hgvsWellDefined": "ENSP00000495778.1:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644371.2:c.778G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016006.6:c.778G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495778.1:p.Glu260Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057090.2:p.Glu260Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000646378.1:c.*828G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495826.1:n.*828G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "endIntronDirection": "-",
          "endIntronOffset": 767,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "-",
          "startIntronOffset": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000646799.1:c.*248-768G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494829.1:n.*248-768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000649763.1:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497701.1:p.Glu260Lys",
        "hgvsWellDefined": "ENSP00000497701.1:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 269,
          "endIntronDirection": "-",
          "endIntronOffset": 90,
          "referenceAllele": "G",
          "start": 269,
          "startIntronDirection": "-",
          "startIntronOffset": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000413300.1:c.270-91G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392159.1:n.270-91G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000458276.6:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390849.2:p.Glu260Lys",
        "hgvsWellDefined": "ENSP00000390849.2:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8,
          "referenceAllele": "G",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "ENST00000463153.1:n.8G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099608",
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NM_016006.4:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057090.2:p.Glu260Lys",
        "hgvsWellDefined": "NP_057090.2:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "XM_011533779.1:c.655G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532081.1:p.Glu219Lys",
        "hgvsWellDefined": "XP_011532081.1:p.Glu219Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "endIntronDirection": "-",
          "endIntronOffset": 767,
          "referenceAllele": "G",
          "start": 830,
          "startIntronDirection": "-",
          "startIntronOffset": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "XM_011533780.1:c.774-768G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532082.1:n.774-768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "XR_940447.1:n.723G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828045657",
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NM_001355186.1:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342115.1:p.Glu260Lys",
        "hgvsWellDefined": "NP_001342115.1:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828182383",
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NM_001365649.1:c.655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352578.1:p.Glu219Lys",
        "hgvsWellDefined": "NP_001352578.1:p.Glu219Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "endIntronDirection": "-",
          "endIntronOffset": 767,
          "referenceAllele": "G",
          "start": 896,
          "startIntronDirection": "-",
          "startIntronOffset": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NM_001365650.1:c.774-768G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352579.1:n.774-768G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524186"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099608",
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NM_016006.5:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057090.2:p.Glu260Lys",
        "hgvsWellDefined": "NP_057090.2:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NR_158560.1:n.789G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS532128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828045657",
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NM_001355186.2:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342115.1:p.Glu260Lys",
        "hgvsWellDefined": "NP_001342115.1:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099608",
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021396",
      "geneNCBI_id": 51099,
      "geneSymbol": "ABHD5",
      "hgvs": [
        "NM_016006.6:c.778G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057090.2:p.Glu260Lys",
        "hgvsWellDefined": "NP_057090.2:p.Glu260Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644371.2:c.778G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016006.6:c.778G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495778.1:p.Glu260Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057090.2:p.Glu260Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}