{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343064",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46975[alleleid]",
        "alleleId": 46975,
        "preferredName": "NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38416",
        "RCV": [
          "RCV000031970"
        ],
        "variationId": 38416
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102158710G>C?assembly=hg19",
        "id": "chr12:g.102158710G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101764932G>C?assembly=hg38",
        "id": "chr12:g.101764932G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142172397",
        "rs": 142172397
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101764932,
          "referenceAllele": "G",
          "start": 101764931
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101764932G>C",
        "CM000674.2:g.101764932G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102158710,
          "referenceAllele": "G",
          "start": 102158709
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102158710G>C",
        "CM000674.1:g.102158710G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 100682841,
          "referenceAllele": "G",
          "start": 100682840
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100682841G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 70936,
          "referenceAllele": "C",
          "start": 70935
        }
      ],
      "hgvs": [
        "NG_021243.1:g.70936C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.1985C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Ala662Gly",
        "hgvsWellDefined": "ENSP00000299314.7:p.Ala662Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1985C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1985C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Ala662Gly"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Ala662Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "referenceAllele": "C",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.1985C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Ala662Gly",
        "hgvsWellDefined": "ENSP00000299314.7:p.Ala662Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343065",
      "coordinates": [
        {
          "allele": "G",
          "end": 2177,
          "referenceAllele": "C",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.1985C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Ala662Gly",
        "hgvsWellDefined": "NP_077288.2:p.Ala662Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.1985C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Ala662Gly",
        "hgvsWellDefined": "XP_006719656.1:p.Ala662Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2718,
          "referenceAllele": "C",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.1904C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Ala635Gly",
        "hgvsWellDefined": "XP_011537033.1:p.Ala635Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.1985C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Ala662Gly",
        "hgvsWellDefined": "XP_006719656.1:p.Ala662Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2173,
          "referenceAllele": "C",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.1904C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Ala635Gly",
        "hgvsWellDefined": "XP_011537033.1:p.Ala635Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.1769C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Ala590Gly",
        "hgvsWellDefined": "XP_016875450.1:p.Ala590Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.758C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Ala253Gly",
        "hgvsWellDefined": "XP_016875451.1:p.Ala253Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343065",
      "coordinates": [
        {
          "allele": "G",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.1985C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Ala662Gly",
        "hgvsWellDefined": "NP_077288.2:p.Ala662Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1985C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1985C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Ala662Gly"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Ala662Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}