{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274080",
  "communityStandardTitle": [
    "NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186783[alleleid]",
        "alleleId": 186783,
        "preferredName": "NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188885",
        "RCV": [
          "RCV000169239",
          "RCV002228610"
        ],
        "variationId": 188885
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133370313C>T?assembly=hg19",
        "id": "chr9:g.133370313C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130494926C>T?assembly=hg38",
        "id": "chr9:g.130494926C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204537",
        "rs": 786204537
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133370313-C-T?dataset=gnomad_r2_1",
        "id": "9-133370313-C-T",
        "variant": "9:133370313 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130494926-C-T?dataset=gnomad_r3",
        "id": "9-130494926-C-T",
        "variant": "9:130494926 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130494926-C-T?dataset=gnomad_r4",
        "id": "9-130494926-C-T",
        "variant": "9:130494926 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130494926,
          "referenceAllele": "C",
          "start": 130494925
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130494926C>T",
        "CM000671.2:g.130494926C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133370313,
          "referenceAllele": "C",
          "start": 133370312
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133370313C>T",
        "CM000671.1:g.133370313C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 132360134,
          "referenceAllele": "C",
          "start": 132360133
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132360134C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55220,
          "referenceAllele": "C",
          "start": 55219
        }
      ],
      "hgvs": [
        "NG_011542.1:g.55220C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001804"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1070,
          "referenceAllele": "C",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.10:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Arg344Ter",
        "hgvsWellDefined": "ENSP00000253004.6:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.1030C>T"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.1030C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Arg344Ter"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Arg344Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "C",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000352480.9:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253004.6:p.Arg344Ter",
        "hgvsWellDefined": "ENSP00000253004.6:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372386.6:n.301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372393.7:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361469.2:p.Arg344Ter",
        "hgvsWellDefined": "ENSP00000361469.2:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "ENST00000372394.5:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361471.1:p.Arg344Ter",
        "hgvsWellDefined": "ENSP00000361471.1:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274081",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_000050.4:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000041.2:p.Arg344Ter",
        "hgvsWellDefined": "NP_000041.2:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916053000",
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.3:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Arg344Ter",
        "hgvsWellDefined": "NP_446464.1:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.2:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Arg344Ter",
        "hgvsWellDefined": "XP_005272257.1:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.1:c.1144C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Arg382Ter",
        "hgvsWellDefined": "XP_011517007.1:p.Arg382_Lys450delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1059,
          "endIntronDirection": "-",
          "endIntronOffset": 2668,
          "referenceAllele": "G",
          "start": 1059,
          "startIntronDirection": "-",
          "startIntronOffset": 2669
        }
      ],
      "hgvs": [
        "XR_930393.1:n.1060-2669G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_005272200.3:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272257.1:p.Arg344Ter",
        "hgvsWellDefined": "XP_005272257.1:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_011518705.2:c.1144C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517007.1:p.Arg382Ter",
        "hgvsWellDefined": "XP_011517007.1:p.Arg382_Lys450delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "XM_017014729.1:c.1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870218.1:p.Arg376Ter",
        "hgvsWellDefined": "XP_016870218.1:p.Arg376_Lys444delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "endIntronDirection": "-",
          "endIntronOffset": 2668,
          "referenceAllele": "G",
          "start": 1101,
          "startIntronDirection": "-",
          "startIntronOffset": 2669
        }
      ],
      "hgvs": [
        "XR_930393.2:n.1102-2669G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916053000",
      "coordinates": [
        {
          "allele": "T",
          "end": 1070,
          "referenceAllele": "C",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NM_054012.4:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_446464.1:p.Arg344Ter",
        "hgvsWellDefined": "NP_446464.1:p.Arg344_Lys412delinsValGluGlyLysValGlnValSerValLeuLysGlyGlnValTyrIleLeuGlyArgGluSerProLeuSerLeuTyrAsnGluGluLeuValSerMetAsnValGlnGlyAspTyrGluProThrAspAlaThrGlyPheIleAsnIleAsnSerLeuArgLeuLysGluTyrHisArgLeuGlnSerLysValThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352480.10:c.1030C>T"
          },
          "RefSeq": {
            "hgvs": "NM_054012.4:c.1030C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253004.6:p.Arg344Ter"
          },
          "RefSeq": {
            "hgvs": "NP_446464.1:p.Arg344Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}