{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412182520",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.160C>G (p.Leu54Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056696[alleleid]",
        "alleleId": 1056696,
        "preferredName": "NM_000487.6(ARSA):c.160C>G (p.Leu54Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1066235",
        "RCV": [
          "RCV001377180"
        ],
        "variationId": 1066235
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51066048G>C?assembly=hg19",
        "id": "chr22:g.51066048G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50627620G>C?assembly=hg38",
        "id": "chr22:g.50627620G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1410632651",
        "rs": 1410632651
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-51066048-G-C?dataset=gnomad_r2_1",
        "id": "22-51066048-G-C",
        "variant": "22:51066048 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50627620-G-C?dataset=gnomad_r4",
        "id": "22-50627620-G-C",
        "variant": "22:50627620 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 50627620,
          "referenceAllele": "G",
          "start": 50627619
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50627620G>C",
        "CM000684.2:g.50627620G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 51066048,
          "referenceAllele": "G",
          "start": 51066047
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51066048G>C",
        "CM000684.1:g.51066048G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 49412914,
          "referenceAllele": "G",
          "start": 49412913
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49412914G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5560,
          "referenceAllele": "C",
          "start": 5559
        }
      ],
      "hgvs": [
        "NG_009260.2:g.5560C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Leu54Val",
        "hgvsWellDefined": "ENSP00000216124.5:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.160C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.160C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Leu54Val"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Leu54Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Leu54Val",
        "hgvsWellDefined": "ENSP00000216124.5:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Leu54Val",
        "hgvsWellDefined": "ENSP00000348406.5:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Leu54Val",
        "hgvsWellDefined": "ENSP00000378981.3:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Leu54Val",
        "hgvsWellDefined": "ENSP00000378983.3:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.-34-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:n.-34-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000551731.1:n.551C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188278",
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Leu54Val",
        "hgvsWellDefined": "NP_000478.3:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518041",
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Leu54Val",
        "hgvsWellDefined": "NP_001078894.2:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518747",
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "C",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Leu54Val",
        "hgvsWellDefined": "NP_001078895.2:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499237627",
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Leu54Val",
        "hgvsWellDefined": "NP_001078896.2:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.-34-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.-34-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.-34-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:n.-34-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Leu54Val",
        "hgvsWellDefined": "XP_011528993.1:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 183,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 183,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.-34-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.-34-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Leu54Val",
        "hgvsWellDefined": "XP_011528993.1:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Leu54Val",
        "hgvsWellDefined": "XP_016884289.1:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:p.Leu54Val",
        "hgvsWellDefined": "XP_024308009.1:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188278",
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Leu54Val",
        "hgvsWellDefined": "NP_000478.3:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.160C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.160C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Leu54Val"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Leu54Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518041",
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Leu54Val",
        "hgvsWellDefined": "NP_001078894.2:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518747",
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Leu54Val",
        "hgvsWellDefined": "NP_001078895.2:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499237627",
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.160C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Leu54Val",
        "hgvsWellDefined": "NP_001078896.2:p.Leu54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 207,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.-34-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.-34-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 162,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 162,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.-34-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.-34-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}