{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352634302",
  "communityStandardTitle": [
    "NM_000387.6(SLC25A20):c.292A>T (p.Lys98Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=452806[alleleid]",
        "alleleId": 452806,
        "preferredName": "NM_000387.6(SLC25A20):c.292A>T (p.Lys98Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/460439",
        "RCV": [
          "RCV000532365"
        ],
        "variationId": 460439
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.48921464T>A?assembly=hg19",
        "id": "chr3:g.48921464T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.48884031T>A?assembly=hg38",
        "id": "chr3:g.48884031T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553686321",
        "rs": 1553686321
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 48884031,
          "referenceAllele": "T",
          "start": 48884030
        }
      ],
      "hgvs": [
        "NC_000003.12:g.48884031T>A",
        "CM000665.2:g.48884031T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 48921464,
          "referenceAllele": "T",
          "start": 48921463
        }
      ],
      "hgvs": [
        "NC_000003.11:g.48921464T>A",
        "CM000665.1:g.48921464T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 48896468,
          "referenceAllele": "T",
          "start": 48896467
        }
      ],
      "hgvs": [
        "NC_000003.10:g.48896468T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19866,
          "referenceAllele": "A",
          "start": 19865
        }
      ],
      "hgvs": [
        "NG_008171.1:g.19866A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "A",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "ENST00000319017.5:c.292A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326305.4:p.Lys98Ter",
        "hgvsWellDefined": "ENSP00000326305.4:p.Lys98_Leu301delinsLeuGlnGlnLysHisProGluAspValLeuSerTyrProGlnLeuPheAlaAlaGlyMetLeuSerGlyValPheThrThrGlyIleMetThrProGlyGluArgIleLysCysLeuLeuGlnIleGlnAlaSerSerGlyGluSerLysTyrThrGlyThrLeuAspCysAlaLysLysLeuTyrGlnGluPheGlyIleArgGlyIleTyrLysGlyThrValLeuThrLeuMetArgAspValProAlaSerGlyMetTyrPheMetThrTyrGluTrpLeuLysAsnIlePheThrProGluGlyLysArgValSerGluLeuSerAlaProArgIleLeuValAlaGlyGlyIleAlaGlyIlePheAsnTrpAlaValAlaIleProProAspValLeuLysSerArgPheGlnThrAlaProProGlyLysTyrProAsnGlyPheArgAspValLeuArgGluLeuIleArgAspGluGlyValThrSerLeuTyrLysGlyPheAsnAlaValMetIleArgAlaPheProAlaAsnAlaAlaCysPheLeuGlyPheGluValAlaMetLysPheLeuAsnTrpAlaThrProAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319017.5:c.292A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000387.6:c.292A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326305.4:p.Lys98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000378.1:p.Lys98Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "ENST00000319017.4:c.292A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326305.4:p.Lys98Ter",
        "hgvsWellDefined": "ENSP00000326305.4:p.Lys98_Leu301delinsLeuGlnGlnLysHisProGluAspValLeuSerTyrProGlnLeuPheAlaAlaGlyMetLeuSerGlyValPheThrThrGlyIleMetThrProGlyGluArgIleLysCysLeuLeuGlnIleGlnAlaSerSerGlyGluSerLysTyrThrGlyThrLeuAspCysAlaLysLysLeuTyrGlnGluPheGlyIleArgGlyIleTyrLysGlyThrValLeuThrLeuMetArgAspValProAlaSerGlyMetTyrPheMetThrTyrGluTrpLeuLysAsnIlePheThrProGluGlyLysArgValSerGluLeuSerAlaProArgIleLeuValAlaGlyGlyIleAlaGlyIlePheAsnTrpAlaValAlaIleProProAspValLeuLysSerArgPheGlnThrAlaProProGlyLysTyrProAsnGlyPheArgAspValLeuArgGluLeuIleArgAspGluGlyValThrSerLeuTyrLysGlyPheAsnAlaValMetIleArgAlaPheProAlaAsnAlaAlaCysPheLeuGlyPheGluValAlaMetLysPheLeuAsnTrpAlaThrProAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 7949,
          "referenceAllele": "A",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 7948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "ENST00000430379.5:c.198+7949A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388986.1:n.198+7949A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "A",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "ENST00000440964.1:c.*122A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388563.1:n.*122A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679538",
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "NM_000387.5:c.292A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000378.1:p.Lys98Ter",
        "hgvsWellDefined": "NP_000378.1:p.Lys98_Leu301delinsLeuGlnGlnLysHisProGluAspValLeuSerTyrProGlnLeuPheAlaAlaGlyMetLeuSerGlyValPheThrThrGlyIleMetThrProGlyGluArgIleLysCysLeuLeuGlnIleGlnAlaSerSerGlyGluSerLysTyrThrGlyThrLeuAspCysAlaLysLysLeuTyrGlnGluPheGlyIleArgGlyIleTyrLysGlyThrValLeuThrLeuMetArgAspValProAlaSerGlyMetTyrPheMetThrTyrGluTrpLeuLysAsnIlePheThrProGluGlyLysArgValSerGluLeuSerAlaProArgIleLeuValAlaGlyGlyIleAlaGlyIlePheAsnTrpAlaValAlaIleProProAspValLeuLysSerArgPheGlnThrAlaProProGlyLysTyrProAsnGlyPheArgAspValLeuArgGluLeuIleArgAspGluGlyValThrSerLeuTyrLysGlyPheAsnAlaValMetIleArgAlaPheProAlaAsnAlaAlaCysPheLeuGlyPheGluValAlaMetLysPheLeuAsnTrpAlaThrProAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "XM_006713327.1:c.292A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713390.1:p.Lys98Ter",
        "hgvsWellDefined": "XP_006713390.1:p.Lys98_Leu184delinsLeuGlnGlnLysHisProGluAspValLeuSerTyrProGlnLeuPheAlaAlaGlyMetLeuSerGlyValPheThrThrGlyIleMetThrProGlyGluArgIleLysCysLeuLeuGlnIleGlnAlaSerSerGlyGluSerLysTyrThrGlyThrLeuAspCysAlaLysLysLeuTyrGlnGluPheGlyIleArgGlyIleTyrLysGlyThrValLeuThrLeuMetArgGlyLeuPheProTrpLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679538",
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "A",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001421",
      "geneNCBI_id": 788,
      "geneSymbol": "SLC25A20",
      "hgvs": [
        "NM_000387.6:c.292A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000378.1:p.Lys98Ter",
        "hgvsWellDefined": "NP_000378.1:p.Lys98_Leu301delinsLeuGlnGlnLysHisProGluAspValLeuSerTyrProGlnLeuPheAlaAlaGlyMetLeuSerGlyValPheThrThrGlyIleMetThrProGlyGluArgIleLysCysLeuLeuGlnIleGlnAlaSerSerGlyGluSerLysTyrThrGlyThrLeuAspCysAlaLysLysLeuTyrGlnGluPheGlyIleArgGlyIleTyrLysGlyThrValLeuThrLeuMetArgAspValProAlaSerGlyMetTyrPheMetThrTyrGluTrpLeuLysAsnIlePheThrProGluGlyLysArgValSerGluLeuSerAlaProArgIleLeuValAlaGlyGlyIleAlaGlyIlePheAsnTrpAlaValAlaIleProProAspValLeuLysSerArgPheGlnThrAlaProProGlyLysTyrProAsnGlyPheArgAspValLeuArgGluLeuIleArgAspGluGlyValThrSerLeuTyrLysGlyPheAsnAlaValMetIleArgAlaPheProAlaAsnAlaAlaCysPheLeuGlyPheGluValAlaMetLysPheLeuAsnTrpAlaThrProAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319017.5:c.292A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000387.6:c.292A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326305.4:p.Lys98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000378.1:p.Lys98Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}