{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389733170",
  "communityStandardTitle": [
    "NM_014584.3(ERO1A):c.647G>C (p.Arg216Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2266068[alleleid]",
        "alleleId": 2266068,
        "preferredName": "NM_014584.3(ERO1A):c.647G>C (p.Arg216Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2276246",
        "RCV": [
          "RCV004126881"
        ],
        "variationId": 2276246
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.53130548C>G?assembly=hg19",
        "id": "chr14:g.53130548C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.52663830C>G?assembly=hg38",
        "id": "chr14:g.52663830C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1172188263",
        "rs": 1172188263
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-53130548-C-G?dataset=gnomad_r2_1",
        "id": "14-53130548-C-G",
        "variant": "14:53130548 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-52663830-C-G?dataset=gnomad_r4",
        "id": "14-52663830-C-G",
        "variant": "14:52663830 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 52663830,
          "referenceAllele": "C",
          "start": 52663829
        }
      ],
      "hgvs": [
        "NC_000014.9:g.52663830C>G",
        "CM000676.2:g.52663830C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 53130548,
          "referenceAllele": "C",
          "start": 53130547
        }
      ],
      "hgvs": [
        "NC_000014.8:g.53130548C>G",
        "CM000676.1:g.53130548C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 52200298,
          "referenceAllele": "C",
          "start": 52200297
        }
      ],
      "hgvs": [
        "NC_000014.7:g.52200298C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "ENST00000395686.8:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379042.3:p.Arg216Thr",
        "hgvsWellDefined": "ENSP00000379042.3:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395686.8:c.647G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014584.3:c.647G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379042.3:p.Arg216Thr"
          },
          "RefSeq": {
            "hgvs": "NP_055399.1:p.Arg216Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "ENST00000395686.7:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379042.3:p.Arg216Thr",
        "hgvsWellDefined": "ENSP00000379042.3:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "ENST00000554019.5:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451204.1:p.Arg216Thr",
        "hgvsWellDefined": "ENSP00000451204.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "ENST00000556039.5:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452020.1:p.Arg216Thr",
        "hgvsWellDefined": "ENSP00000452020.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "ENST00000556769.1:n.373G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "ENST00000629528.2:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487101.1:p.Arg216Thr",
        "hgvsWellDefined": "ENSP00000487101.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829755989",
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "referenceAllele": "G",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_014584.2:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055399.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_055399.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "XM_011536684.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534986.1:p.Arg216Thr",
        "hgvsWellDefined": "XP_011534986.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "XM_011536684.2:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534986.1:p.Arg216Thr",
        "hgvsWellDefined": "XP_011534986.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "XM_024449554.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305322.1:p.Arg216Thr",
        "hgvsWellDefined": "XP_024305322.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829755989",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_014584.3:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055399.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_055399.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668399",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395686.8:c.647G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014584.3:c.647G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379042.3:p.Arg216Thr"
          },
          "RefSeq": {
            "hgvs": "NP_055399.1:p.Arg216Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580238115",
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382464.1:c.686G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369393.1:p.Arg229Thr",
        "hgvsWellDefined": "NP_001369393.1:p.Arg229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899316",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382465.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369394.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_001369394.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722366"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899330",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382466.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369395.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_001369395.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899344",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382467.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369396.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_001369396.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899358",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382468.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369397.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_001369397.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899372",
      "coordinates": [
        {
          "allele": "C",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382469.1:c.608G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369398.1:p.Arg203Thr",
        "hgvsWellDefined": "NP_001369398.1:p.Arg203Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899386",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382470.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369399.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_001369399.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722371"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899399",
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382471.1:c.560G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369400.1:p.Arg187Thr",
        "hgvsWellDefined": "NP_001369400.1:p.Arg187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899413",
      "coordinates": [
        {
          "allele": "C",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382472.1:c.536G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369401.1:p.Arg179Thr",
        "hgvsWellDefined": "NP_001369401.1:p.Arg179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899427",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382473.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369402.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_001369402.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722374"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899440",
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382474.1:c.443G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369403.1:p.Arg148Thr",
        "hgvsWellDefined": "NP_001369403.1:p.Arg148Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899452",
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382475.1:c.407G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369404.1:p.Arg136Thr",
        "hgvsWellDefined": "NP_001369404.1:p.Arg136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828899466",
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013280",
      "geneNCBI_id": 30001,
      "geneSymbol": "ERO1A",
      "hgvs": [
        "NM_001382476.1:c.647G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369405.1:p.Arg216Thr",
        "hgvsWellDefined": "NP_001369405.1:p.Arg216Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722377"
    }
  ],
  "type": "nucleotide"
}