{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404321325",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=613626[alleleid]",
        "alleleId": 613626,
        "preferredName": "NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/625294",
        "RCV": [
          "RCV000767353"
        ],
        "variationId": 625294
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.13008548A>G?assembly=hg19",
        "id": "chr19:g.13008548A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12897734A>G?assembly=hg38",
        "id": "chr19:g.12897734A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771924230",
        "rs": 771924230
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 12897734,
          "referenceAllele": "A",
          "start": 12897733
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12897734A>G",
        "CM000681.2:g.12897734A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 13008548,
          "referenceAllele": "A",
          "start": 13008547
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13008548A>G",
        "CM000681.1:g.13008548A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 12869548,
          "referenceAllele": "A",
          "start": 12869547
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12869548A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11575,
          "referenceAllele": "A",
          "start": 11574
        }
      ],
      "hgvs": [
        "NG_009292.1:g.11575A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26539,
          "referenceAllele": "T",
          "start": 26538
        }
      ],
      "hgvs": [
        "NG_033049.1:g.26539T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005381"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Arg372Gly",
        "hgvsWellDefined": "ENSP00000222214.4:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1114A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1114A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Arg372Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Arg372Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1325,
          "referenceAllele": "A",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Arg372Gly",
        "hgvsWellDefined": "ENSP00000222214.4:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "A",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.1444A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "referenceAllele": "A",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590472.5:c.158A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "referenceAllele": "A",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.*554A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.*554A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1424,
          "referenceAllele": "A",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.1424A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "referenceAllele": "A",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591050.1:c.81A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "A",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Arg372Gly",
        "hgvsWellDefined": "ENSP00000466845.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191971",
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Arg372Gly",
        "hgvsWellDefined": "NP_000150.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009215",
      "coordinates": [
        {
          "allele": "G",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg372Gly",
        "hgvsWellDefined": "NP_039663.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1277,
          "referenceAllele": "A",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.1277A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "A",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.1495A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:p.Arg372Gly",
        "hgvsWellDefined": "XP_006722784.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Arg372Gly",
        "hgvsWellDefined": "XP_011526201.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Arg372Gly",
        "hgvsWellDefined": "XP_011526202.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:p.Arg372Gly",
        "hgvsWellDefined": "XP_011526201.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:p.Arg372Gly",
        "hgvsWellDefined": "XP_011526202.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:p.Arg372Gly",
        "hgvsWellDefined": "XP_016882069.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191971",
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Arg372Gly",
        "hgvsWellDefined": "NP_000150.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1114A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1114A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Arg372Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Arg372Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009215",
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg372Gly",
        "hgvsWellDefined": "NP_039663.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916009215",
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.1114A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:p.Arg372Gly",
        "hgvsWellDefined": "NP_039663.1:p.Arg372Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}