{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120148",
  "communityStandardTitle": [
    "NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24189[alleleid]",
        "alleleId": 24189,
        "preferredName": "NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9150",
        "RCV": [
          "RCV000009721",
          "RCV000414574",
          "RCV000504977",
          "RCV000504789",
          "RCV001074768"
        ],
        "variationId": 9150
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42146112A>G?assembly=hg19",
        "id": "chr6:g.42146112A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.42178374A>G?assembly=hg38",
        "id": "chr6:g.42178374A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893967",
        "rs": 104893967
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-42178374-A-G?dataset=gnomad_r4",
        "id": "6-42178374-A-G",
        "variant": "6:42178374 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42178374,
          "referenceAllele": "A",
          "start": 42178373
        }
      ],
      "hgvs": [
        "NC_000006.12:g.42178374A>G",
        "CM000668.2:g.42178374A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42146112,
          "referenceAllele": "A",
          "start": 42146111
        }
      ],
      "hgvs": [
        "NC_000006.11:g.42146112A>G",
        "CM000668.1:g.42146112A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 42254090,
          "referenceAllele": "A",
          "start": 42254089
        }
      ],
      "hgvs": [
        "NC_000006.10:g.42254090A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27969,
          "referenceAllele": "A",
          "start": 27968
        }
      ],
      "hgvs": [
        "NG_009938.1:g.27969A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001704"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056129",
      "geneNCBI_id": 118142757,
      "geneSymbol": "GUCA1ANB-GUCA1A",
      "hgvs": [
        "ENST00000703266.1:c.*531A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515251.1:n.*531A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1272,
          "referenceAllele": "A",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056129",
      "geneNCBI_id": 118142757,
      "geneSymbol": "GUCA1ANB-GUCA1A",
      "hgvs": [
        "ENST00000703267.1:c.*794A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515252.1:n.*794A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "ENST00000372958.2:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362049.1:p.Tyr99Cys",
        "hgvsWellDefined": "ENSP00000362049.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372958.2:c.296A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001384910.1:c.296A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362049.1:p.Tyr99Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001371839.1:p.Tyr99Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1272,
          "referenceAllele": "A",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055126",
      "geneNCBI_id": 114841037,
      "geneSymbol": "CIMIP3",
      "hgvs": [
        "ENST00000394237.6:c.*794A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377784.2:n.*794A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "ENST00000654459.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499539.1:p.Tyr99Cys",
        "hgvsWellDefined": "ENSP00000499539.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055126",
      "geneNCBI_id": 114841037,
      "geneSymbol": "CIMIP3",
      "hgvs": [
        "ENST00000659095.1:c.*531A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499714.1:n.*531A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "A",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "ENST00000679182.1:c.77A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504837.1:p.Tyr26Cys",
        "hgvsWellDefined": "ENSP00000504837.1:p.Tyr26Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "ENST00000053469.8:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000053469.4:p.Tyr99Cys",
        "hgvsWellDefined": "ENSP00000053469.4:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "referenceAllele": "A",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "ENST00000372958.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362049.1:p.Tyr99Cys",
        "hgvsWellDefined": "ENSP00000362049.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1272,
          "referenceAllele": "A",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "ENST00000394237.5:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377784.1:p.Tyr99Cys",
        "hgvsWellDefined": "ENSP00000377784.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "ENST00000541991.5:c.284A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437476.2:p.Tyr95Cys",
        "hgvsWellDefined": "ENSP00000437476.2:p.Tyr95Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104997",
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_000409.3:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000400.2:p.Tyr99Cys",
        "hgvsWellDefined": "NP_000400.2:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "referenceAllele": "A",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "XM_006715073.2:c.77A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715136.1:p.Tyr26Cys",
        "hgvsWellDefined": "XP_006715136.1:p.Tyr26Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1272,
          "referenceAllele": "A",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "XM_011514536.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512838.1:p.Tyr99Cys",
        "hgvsWellDefined": "XP_011512838.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "A",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "XM_011514537.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512839.1:p.Tyr99Cys",
        "hgvsWellDefined": "XP_011512839.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "XM_011514538.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512840.1:p.Tyr99Cys",
        "hgvsWellDefined": "XP_011512840.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 833,
          "referenceAllele": "A",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "XM_011514539.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512841.1:p.Tyr99Cys",
        "hgvsWellDefined": "XP_011512841.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104997",
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "A",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_000409.4:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000400.2:p.Tyr99Cys",
        "hgvsWellDefined": "NP_000400.2:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827031059",
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "A",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_001319061.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305990.1:p.Tyr99Cys",
        "hgvsWellDefined": "NP_001305990.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024177",
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "A",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_001319062.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305991.1:p.Tyr99Cys",
        "hgvsWellDefined": "NP_001305991.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 183,
          "referenceAllele": "A",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "XM_006715073.3:c.77A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715136.1:p.Tyr26Cys",
        "hgvsWellDefined": "XP_006715136.1:p.Tyr26Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1231,
          "referenceAllele": "A",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "XM_011514537.2:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512839.1:p.Tyr99Cys",
        "hgvsWellDefined": "XP_011512839.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543374"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104997",
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_000409.5:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000400.2:p.Tyr99Cys",
        "hgvsWellDefined": "NP_000400.2:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827031059",
      "coordinates": [
        {
          "allele": "G",
          "end": 1312,
          "referenceAllele": "A",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_001319061.2:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305990.1:p.Tyr99Cys",
        "hgvsWellDefined": "NP_001305990.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024177",
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "A",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_001319062.2:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305991.1:p.Tyr99Cys",
        "hgvsWellDefined": "NP_001305991.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573077575",
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004678",
      "geneNCBI_id": 2978,
      "geneSymbol": "GUCA1A",
      "hgvs": [
        "NM_001384910.1:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371839.1:p.Tyr99Cys",
        "hgvsWellDefined": "NP_001371839.1:p.Tyr99Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372958.2:c.296A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001384910.1:c.296A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362049.1:p.Tyr99Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001371839.1:p.Tyr99Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}