{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394184063",
  "communityStandardTitle": [
    "NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547672[alleleid]",
        "alleleId": 547672,
        "preferredName": "NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/549903",
        "RCV": [
          "RCV000664475",
          "RCV002530627"
        ],
        "variationId": 549903
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1402124C>G?assembly=hg19",
        "id": "chr16:g.1402124C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1352123C>G?assembly=hg38",
        "id": "chr16:g.1352123C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853826",
        "rs": 137853826
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1352123-C-G?dataset=gnomad_r4",
        "id": "16-1352123-C-G",
        "variant": "16:1352123 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 1352123,
          "referenceAllele": "C",
          "start": 1352122
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1352123C>G",
        "CM000678.2:g.1352123C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 1402124,
          "referenceAllele": "C",
          "start": 1402123
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1402124C>G",
        "CM000678.1:g.1402124C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 1342125,
          "referenceAllele": "C",
          "start": 1342124
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1342125C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5225,
          "referenceAllele": "C",
          "start": 5224
        }
      ],
      "hgvs": [
        "NG_016985.1:g.5225C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003352"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000527168.6:n.94C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "referenceAllele": "C",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529110.2:c.158C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435349.2:p.Ala53Gly",
        "hgvsWellDefined": "ENSP00000435349.2:p.Ala53Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529957.6:n.53C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000683366.1:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507283.1:p.Ala25Gly",
        "hgvsWellDefined": "ENSP00000507283.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000683887.1:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506886.1:p.Ala25Gly",
        "hgvsWellDefined": "ENSP00000506886.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000684126.1:n.53C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000204679.9:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204679.4:p.Ala25Gly",
        "hgvsWellDefined": "ENSP00000204679.4:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000204679.9:c.74C>G"
          },
          "RefSeq": {
            "hgvs": "NM_032520.5:c.74C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000204679.4:p.Ala25Gly"
          },
          "RefSeq": {
            "hgvs": "NP_115909.1:p.Ala25Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 117,
          "referenceAllele": "C",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000204679.8:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000204679.4:p.Ala25Gly",
        "hgvsWellDefined": "ENSP00000204679.4:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000526820.5:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434413.1:p.Ala25Gly",
        "hgvsWellDefined": "ENSP00000434413.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89,
          "referenceAllele": "C",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000527137.2:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480060.1:p.Ala25Gly",
        "hgvsWellDefined": "ENSP00000480060.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "referenceAllele": "C",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000527168.5:n.86C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96,
          "referenceAllele": "C",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000527876.5:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460728.1:p.Ala25Gly",
        "hgvsWellDefined": "ENSP00000460728.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529110.1:c.141C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000529957.5:n.94C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "ENST00000534197.5:n.92C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831914",
      "coordinates": [
        {
          "allele": "G",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "NM_032520.4:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115909.1:p.Ala25Gly",
        "hgvsWellDefined": "NP_115909.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "XM_017023782.1:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879271.1:p.Ala25Gly",
        "hgvsWellDefined": "XP_016879271.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831914",
      "coordinates": [
        {
          "allele": "G",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023026",
      "geneNCBI_id": 84572,
      "geneSymbol": "GNPTG",
      "hgvs": [
        "NM_032520.5:c.74C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115909.1:p.Ala25Gly",
        "hgvsWellDefined": "NP_115909.1:p.Ala25Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000204679.9:c.74C>G"
          },
          "RefSeq": {
            "hgvs": "NM_032520.5:c.74C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000204679.4:p.Ala25Gly"
          },
          "RefSeq": {
            "hgvs": "NP_115909.1:p.Ala25Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}