{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3510137",
  "communityStandardTitle": [
    "NM_001012301.4(ARSI):c.1240G>T (p.Ala414Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1445765[alleleid]",
        "alleleId": 1445765,
        "preferredName": "NM_001012301.4(ARSI):c.1240G>T (p.Ala414Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1509846",
        "RCV": [
          "RCV002040785",
          "RCV004046652"
        ],
        "variationId": 1509846
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-149677247-C-A",
        "id": "5-149677247-C-A",
        "variant": "5:149677247 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149677247C>A?assembly=hg19",
        "id": "chr5:g.149677247C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150297684C>A?assembly=hg38",
        "id": "chr5:g.150297684C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745663592",
        "rs": 745663592
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-149677247-C-A?dataset=gnomad_r2_1",
        "id": "5-149677247-C-A",
        "variant": "5:149677247 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150297684-C-A?dataset=gnomad_r3",
        "id": "5-150297684-C-A",
        "variant": "5:150297684 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150297684-C-A?dataset=gnomad_r4",
        "id": "5-150297684-C-A",
        "variant": "5:150297684 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 150297684,
          "referenceAllele": "C",
          "start": 150297683
        }
      ],
      "hgvs": [
        "NC_000005.10:g.150297684C>A",
        "CM000667.2:g.150297684C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149677247,
          "referenceAllele": "C",
          "start": 149677246
        }
      ],
      "hgvs": [
        "NC_000005.9:g.149677247C>A",
        "CM000667.1:g.149677247C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149657440,
          "referenceAllele": "C",
          "start": 149657439
        }
      ],
      "hgvs": [
        "NC_000005.8:g.149657440C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10279,
          "referenceAllele": "G",
          "start": 10278
        }
      ],
      "hgvs": [
        "NG_051250.1:g.10279G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616932"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "G",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032521",
      "geneNCBI_id": 340075,
      "geneSymbol": "ARSI",
      "hgvs": [
        "ENST00000328668.8:c.1240G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333395.7:p.Ala414Ser",
        "hgvsWellDefined": "ENSP00000333395.7:p.Ala414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328668.8:c.1240G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001012301.4:c.1240G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333395.7:p.Ala414Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001012301.1:p.Ala414Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1820,
          "referenceAllele": "G",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032521",
      "geneNCBI_id": 340075,
      "geneSymbol": "ARSI",
      "hgvs": [
        "ENST00000328668.7:c.1240G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333395.7:p.Ala414Ser",
        "hgvsWellDefined": "ENSP00000333395.7:p.Ala414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032521",
      "geneNCBI_id": 340075,
      "geneSymbol": "ARSI",
      "hgvs": [
        "ENST00000515301.2:c.811G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426879.2:p.Ala271Ser",
        "hgvsWellDefined": "ENSP00000426879.2:p.Ala271Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573175498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "G",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032521",
      "geneNCBI_id": 340075,
      "geneSymbol": "ARSI",
      "hgvs": [
        "NM_001012301.2:c.1240G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012301.1:p.Ala414Ser",
        "hgvsWellDefined": "NP_001012301.1:p.Ala414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573175498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "G",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032521",
      "geneNCBI_id": 340075,
      "geneSymbol": "ARSI",
      "hgvs": [
        "NM_001012301.3:c.1240G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012301.1:p.Ala414Ser",
        "hgvsWellDefined": "NP_001012301.1:p.Ala414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573175498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "G",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032521",
      "geneNCBI_id": 340075,
      "geneSymbol": "ARSI",
      "hgvs": [
        "NM_001012301.4:c.1240G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012301.1:p.Ala414Ser",
        "hgvsWellDefined": "NP_001012301.1:p.Ala414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662902",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328668.8:c.1240G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001012301.4:c.1240G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333395.7:p.Ala414Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001012301.1:p.Ala414Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}