{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9234312",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410475[alleleid]",
        "alleleId": 410475,
        "preferredName": "NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418224",
        "RCV": [
          "RCV000485466",
          "RCV000675080"
        ],
        "variationId": 418224
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-13002939-G-A",
        "id": "19-13002939-G-A",
        "variant": "19:13002939 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13002939G>A?assembly=hg19",
        "id": "chr19:g.13002939G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12892125G>A?assembly=hg38",
        "id": "chr19:g.12892125G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/566417795",
        "rs": 566417795
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13002939-G-A?dataset=gnomad_r2_1",
        "id": "19-13002939-G-A",
        "variant": "19:13002939 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12892125-G-A?dataset=gnomad_r3",
        "id": "19-12892125-G-A",
        "variant": "19:12892125 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12892125-G-A?dataset=gnomad_r4",
        "id": "19-12892125-G-A",
        "variant": "19:12892125 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12892125,
          "referenceAllele": "G",
          "start": 12892124
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12892125G>A",
        "CM000681.2:g.12892125G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 13002939,
          "referenceAllele": "G",
          "start": 13002938
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13002939G>A",
        "CM000681.1:g.13002939G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12863939,
          "referenceAllele": "G",
          "start": 12863938
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12863939G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5966,
          "referenceAllele": "G",
          "start": 5965
        }
      ],
      "hgvs": [
        "NG_009292.1:g.5966G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "C",
          "start": 78
        }
      ],
      "hgvs": [
        "NG_013087.1:g.79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002710"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Arg94Gln",
        "hgvsWellDefined": "ENSP00000222214.4:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.281G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.281G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Arg94Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Arg94Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Arg94Gln",
        "hgvsWellDefined": "ENSP00000222214.4:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "endIntronDirection": "+",
          "endIntronOffset": 151,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "+",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000421816.6:n.312+151G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS286984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.646G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585760.5:n.317G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000587072.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468584.1:p.Arg94Gln",
        "hgvsWellDefined": "ENSP00000468584.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "G",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000587832.5:n.338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000588905.5:c.245G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465770.1:p.Arg82Gln",
        "hgvsWellDefined": "ENSP00000465770.1:p.Arg82Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "endIntronDirection": "+",
          "endIntronOffset": 151,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "+",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000589039.5:c.271+151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465618.1:n.271+151G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590445.5:c.*158G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468125.1:n.*158G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "endIntronDirection": "+",
          "endIntronOffset": 151,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "+",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.271+151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.271+151G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590627.5:n.646G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.317G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Arg94Gln",
        "hgvsWellDefined": "ENSP00000466845.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645479856",
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Arg94Gln",
        "hgvsWellDefined": "NP_000150.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008987",
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg94Gln",
        "hgvsWellDefined": "NP_039663.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 151,
          "referenceAllele": "G",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.379+151G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.697G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:p.Arg94Gln",
        "hgvsWellDefined": "XP_006722784.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Arg94Gln",
        "hgvsWellDefined": "XP_011526201.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Arg94Gln",
        "hgvsWellDefined": "XP_011526202.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Arg94Gln",
        "hgvsWellDefined": "XP_011526201.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Arg94Gln",
        "hgvsWellDefined": "XP_011526202.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:p.Arg94Gln",
        "hgvsWellDefined": "XP_016882069.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645479856",
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Arg94Gln",
        "hgvsWellDefined": "NP_000150.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.281G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.281G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Arg94Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Arg94Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008987",
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg94Gln",
        "hgvsWellDefined": "NP_039663.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916008987",
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg94Gln",
        "hgvsWellDefined": "NP_039663.1:p.Arg94Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}