{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA234086",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177296[alleleid]",
        "alleleId": 177296,
        "preferredName": "NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167133",
        "RCV": [
          "RCV000173984",
          "RCV000790682",
          "RCV003398804"
        ],
        "variationId": 167133
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-13008674-G-A",
        "id": "19-13008674-G-A",
        "variant": "19:13008674 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13008674G>A?assembly=hg19",
        "id": "chr19:g.13008674G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12897860G>A?assembly=hg38",
        "id": "chr19:g.12897860G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147611168",
        "rs": 147611168
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-13008674-G-A?dataset=gnomad_r2_1",
        "id": "19-13008674-G-A",
        "variant": "19:13008674 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12897860-G-A?dataset=gnomad_r3",
        "id": "19-12897860-G-A",
        "variant": "19:12897860 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12897860-G-A?dataset=gnomad_r4",
        "id": "19-12897860-G-A",
        "variant": "19:12897860 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12897860,
          "referenceAllele": "G",
          "start": 12897859
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12897860G>A",
        "CM000681.2:g.12897860G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 13008674,
          "referenceAllele": "G",
          "start": 13008673
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13008674G>A",
        "CM000681.1:g.13008674G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12869674,
          "referenceAllele": "G",
          "start": 12869673
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12869674G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11701,
          "referenceAllele": "G",
          "start": 11700
        }
      ],
      "hgvs": [
        "NG_009292.1:g.11701G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26413,
          "referenceAllele": "C",
          "start": 26412
        }
      ],
      "hgvs": [
        "NG_033049.1:g.26413C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005381"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Glu414Lys",
        "hgvsWellDefined": "ENSP00000222214.4:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1240G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1240G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Glu414Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Glu414Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Glu414Lys",
        "hgvsWellDefined": "ENSP00000222214.4:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1570,
          "referenceAllele": "G",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.1570G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590472.5:c.284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.*680G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.*680G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.1550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591050.1:c.207G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Glu414Lys",
        "hgvsWellDefined": "ENSP00000466845.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095505",
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Glu414Lys",
        "hgvsWellDefined": "NP_000150.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009283",
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Glu414Lys",
        "hgvsWellDefined": "NP_039663.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "G",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.1403G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "referenceAllele": "G",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.1621G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:p.Glu414Lys",
        "hgvsWellDefined": "XP_006722784.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Glu414Lys",
        "hgvsWellDefined": "XP_011526201.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Glu414Lys",
        "hgvsWellDefined": "XP_011526202.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Glu414Lys",
        "hgvsWellDefined": "XP_011526201.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Glu414Lys",
        "hgvsWellDefined": "XP_011526202.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:p.Glu414Lys",
        "hgvsWellDefined": "XP_016882069.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095505",
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Glu414Lys",
        "hgvsWellDefined": "NP_000150.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1240G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1240G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Glu414Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Glu414Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009283",
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Glu414Lys",
        "hgvsWellDefined": "NP_039663.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009283",
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.1240G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Glu414Lys",
        "hgvsWellDefined": "NP_039663.1:p.Glu414Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}