{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10324936",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056694[alleleid]",
        "alleleId": 1056694,
        "preferredName": "NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1068356",
        "RCV": [
          "RCV001379881",
          "RCV004526847"
        ],
        "variationId": 1068356
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-51065172-T-C",
        "id": "22-51065172-T-C",
        "variant": "22:51065172 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51065172T>C?assembly=hg19",
        "id": "chr22:g.51065172T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50626744T>C?assembly=hg38",
        "id": "chr22:g.50626744T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748583298",
        "rs": 748583298
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-51065172-T-C?dataset=gnomad_r2_1",
        "id": "22-51065172-T-C",
        "variant": "22:51065172 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50626744-T-C?dataset=gnomad_r3",
        "id": "22-50626744-T-C",
        "variant": "22:50626744 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50626744-T-C?dataset=gnomad_r4",
        "id": "22-50626744-T-C",
        "variant": "22:50626744 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 50626744,
          "referenceAllele": "T",
          "start": 50626743
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50626744T>C",
        "CM000684.2:g.50626744T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 51065172,
          "referenceAllele": "T",
          "start": 51065171
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51065172T>C",
        "CM000684.1:g.51065172T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 49412038,
          "referenceAllele": "T",
          "start": 49412037
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49412038T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6436,
          "referenceAllele": "A",
          "start": 6435
        }
      ],
      "hgvs": [
        "NG_009260.2:g.6436A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "A",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Gln234Arg",
        "hgvsWellDefined": "ENSP00000216124.5:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.701A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.701A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Gln234Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Gln234Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1094,
          "referenceAllele": "A",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Gln234Arg",
        "hgvsWellDefined": "ENSP00000216124.5:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Gln234Arg",
        "hgvsWellDefined": "ENSP00000348406.5:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "A",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Gln234Arg",
        "hgvsWellDefined": "ENSP00000378981.3:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Gln234Arg",
        "hgvsWellDefined": "ENSP00000378983.3:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "A",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.443A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:p.Gln148Arg",
        "hgvsWellDefined": "ENSP00000412542.2:p.Gln148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1278,
          "referenceAllele": "A",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000551731.1:n.1278A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188770",
      "coordinates": [
        {
          "allele": "G",
          "end": 1095,
          "referenceAllele": "A",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Gln234Arg",
        "hgvsWellDefined": "NP_000478.3:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518318",
      "coordinates": [
        {
          "allele": "G",
          "end": 990,
          "referenceAllele": "A",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Gln234Arg",
        "hgvsWellDefined": "NP_001078894.2:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519025",
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "A",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Gln234Arg",
        "hgvsWellDefined": "NP_001078895.2:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499237620",
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Gln234Arg",
        "hgvsWellDefined": "NP_001078896.2:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519960",
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "A",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.443A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Gln148Arg",
        "hgvsWellDefined": "NP_001078897.1:p.Gln148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "A",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.443A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:p.Gln148Arg",
        "hgvsWellDefined": "XP_011528992.1:p.Gln148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Gln234Arg",
        "hgvsWellDefined": "XP_011528993.1:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065186",
      "coordinates": [
        {
          "allele": "G",
          "end": 660,
          "referenceAllele": "A",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.443A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Gln148Arg",
        "hgvsWellDefined": "NP_001349711.1:p.Gln148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Gln234Arg",
        "hgvsWellDefined": "XP_011528993.1:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Gln234Arg",
        "hgvsWellDefined": "XP_016884289.1:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:p.Gln234Arg",
        "hgvsWellDefined": "XP_024308009.1:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188770",
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "A",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Gln234Arg",
        "hgvsWellDefined": "NP_000478.3:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.701A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.701A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Gln234Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Gln234Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518318",
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "referenceAllele": "A",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Gln234Arg",
        "hgvsWellDefined": "NP_001078894.2:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519025",
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "referenceAllele": "A",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Gln234Arg",
        "hgvsWellDefined": "NP_001078895.2:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499237620",
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.701A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Gln234Arg",
        "hgvsWellDefined": "NP_001078896.2:p.Gln234Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519960",
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "A",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.443A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Gln148Arg",
        "hgvsWellDefined": "NP_001078897.1:p.Gln148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065186",
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "referenceAllele": "A",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.443A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Gln148Arg",
        "hgvsWellDefined": "NP_001349711.1:p.Gln148Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}