{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325962613",
  "communityStandardTitle": [
    "NM_001171038.2(ASMT):c.87C>A (p.Cys29Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269546[alleleid]",
        "alleleId": 269546,
        "preferredName": "NM_001171038.2(ASMT):c.87C>A (p.Cys29Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285309",
        "RCV": [
          "RCV000262182"
        ],
        "variationId": 285309
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.1742049C>A?assembly=hg19",
        "id": "chrX:g.1742049C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.1623156C>A?assembly=hg38",
        "id": "chrX:g.1623156C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199647924",
        "rs": 199647924
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-1623156-C-A?dataset=gnomad_r3",
        "id": "X-1623156-C-A",
        "variant": "X:1623156 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-1623156-C-A?dataset=gnomad_r4",
        "id": "X-1623156-C-A",
        "variant": "X:1623156 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 1623156,
          "referenceAllele": "C",
          "start": 1623155
        }
      ],
      "hgvs": [
        "NC_000023.11:g.1623156C>A",
        "CM000685.2:g.1623156C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 1742049,
          "referenceAllele": "C",
          "start": 1742048
        }
      ],
      "hgvs": [
        "NC_000023.10:g.1742049C>A",
        "CM000685.1:g.1742049C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 1702049,
          "referenceAllele": "C",
          "start": 1702048
        }
      ],
      "hgvs": [
        "NC_000023.9:g.1702049C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000750",
      "geneNCBI_id": 438,
      "geneSymbol": "ASMT",
      "hgvs": [
        "ENST00000381241.9:c.87C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370639.3:p.Cys29Ter",
        "hgvsWellDefined": "ENSP00000370639.3:p.Cys29_Lys373delinsGluLeuGlyValPheAspLeuLeuAlaGluAlaProGlyProLeuAspValAlaAlaValAlaAlaGlyValArgAlaSerAlaHisGlyThrGluLeuLeuLeuAspIleCysValSerLeuLysLeuLeuLysValGluThrArgGlyGlyLysAlaPheTyrArgAsnThrGluLeuSerSerAspTyrLeuThrThrValSerProThrSerGlnCysSerMetLeuLysTyrMetGlyArgThrSerTyrArgCysTrpGlyHisLeuAlaAspAlaValArgGluGlyArgAsnGlnTyrLeuGluThrPheGlyValProAlaGluGluLeuPheThrAlaIleTyrArgSerGluGlyGluArgLeuGlnPheMetGlnAlaLeuGlnGluValTrpSerValAsnGlyArgSerValLeuThrAlaPheAspLeuSerValPheProLeuMetCysAspLeuGlyGlyThrTrpIleLysLeuGluThrIleIleLeuSerLysLeuSerGlnGlyGlnLysThrLysHisArgValPheSerLeuIleGlyGlyAlaGlyAlaLeuAlaLysGluCysMetSerLeuTyrProGlyCysLysIleThrValPheAspIleProGluValValTrpThrAlaLysGlnHisPheSerPheGlnGluGluGluGlnIleAspPheGlnGluGlyAspPhePheLysAspProLeuProGluAlaAspLeuTyrIleLeuAlaArgValLeuHisAspTrpAlaAspGlyLysCysSerHisLeuLeuGluArgIleTyrHisThrCysLysProGlyGlyGlyIleLeuValIleGluSerLeuLeuAspGluAspArgArgGlyProLeuLeuThrGlnLeuTyrSerLeuAsnMetLeuValGlnThrGluGlyGlnGluArgThrProThrHisTyrHisMetLeuLeuSerSerAlaGlyPheArgAspPheGlnPheLysLysThrGlyAlaIleTyrAspAlaIleLeuAlaArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752508",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381241.9:c.87C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171038.2:c.87C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000370639.3:p.Cys29Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001164509.1:p.Cys29Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "C",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000750",
      "geneNCBI_id": 438,
      "geneSymbol": "ASMT",
      "hgvs": [
        "ENST00000381229.9:c.87C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370627.4:p.Cys29Ter",
        "hgvsWellDefined": "ENSP00000370627.4:p.Cys29_Lys345delinsGluLeuGlyValPheAspLeuLeuAlaGluAlaProGlyProLeuAspValAlaAlaValAlaAlaGlyValArgAlaSerAlaHisGlyThrGluLeuLeuLeuAspIleCysValSerLeuLysLeuLeuLysValGluThrArgGlyGlyLysAlaPheTyrArgAsnThrGluLeuSerSerAspTyrLeuThrThrValSerProThrSerGlnCysSerMetLeuLysTyrMetGlyArgThrSerTyrArgCysTrpGlyHisLeuAlaAspAlaValArgGluGlyArgAsnGlnTyrLeuGluThrPheGlyValProAlaGluGluLeuPheThrAlaIleTyrArgSerGluGlyGluArgLeuGlnPheMetGlnAlaLeuGlnGluValTrpSerValAsnGlyArgSerValLeuThrAlaPheAspLeuSerValPheProLeuMetCysAspLeuGlyGlyGlyAlaGlyAlaLeuAlaLysGluCysMetSerLeuTyrProGlyCysLysIleThrValPheAspIleProGluValValTrpThrAlaLysGlnHisPheSerPheGlnGluGluGluGlnIleAspPheGlnGluGlyAspPhePheLysAspProLeuProGluAlaAspLeuTyrIleLeuAlaArgValLeuHisAspTrpAlaAspGlyLysCysSerHisLeuLeuGluArgIleTyrHisThrCysLysProGlyGlyGlyIleLeuValIleGluSerLeuLeuAspGluAspArgArgGlyProLeuLeuThrGlnLeuTyrSerLeuAsnMetLeuValGlnThrGluGlyGlnGluArgThrProThrHisTyrHisMetLeuLeuSerSerAlaGlyPheArgAspPheGlnPheLysLysThrGlyAlaIleTyrAspAlaIleLeuAlaArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "C",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000750",
      "geneNCBI_id": 438,
      "geneSymbol": "ASMT",
      "hgvs": [
        "ENST00000381233.8:c.87C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370631.3:p.Cys29Ter",
        "hgvsWellDefined": "ENSP00000370631.3:p.Cys29_Lys298delinsGluLeuGlyValPheAspLeuLeuAlaGluAlaProGlyProLeuAspValAlaAlaValAlaAlaGlyValArgAlaSerAlaHisGlyThrGluLeuLeuLeuAspIleCysValSerLeuLysLeuLeuLysValGluThrArgGlyGlyLysAlaPheTyrArgAsnThrGluLeuSerSerAspTyrLeuThrThrValSerProThrSerGlnCysSerMetLeuLysTyrMetGlyArgThrSerTyrArgCysTrpGlyHisLeuAlaAspAlaValArgGluGlyArgAsnGlnTyrLeuGluThrPheGlyValProAlaGluGluLeuPheThrAlaIleTyrArgSerGluGlyGluArgLeuGlnPheMetGlnAlaLeuGlnGluValTrpSerValAsnGlyArgSerValLeuThrAlaPheAspLeuSerValPheProLeuMetCysAspLeuGlyGlyAspPhePheLysAspProLeuProGluAlaAspLeuTyrIleLeuAlaArgValLeuHisAspTrpAlaAspGlyLysCysSerHisLeuLeuGluArgIleTyrHisThrCysLysProGlyGlyGlyIleLeuValIleGluSerLeuLeuAspGluAspArgArgGlyProLeuLeuThrGlnLeuTyrSerLeuAsnMetLeuValGlnThrGluGlyGlnGluArgThrProThrHisTyrHisMetLeuLeuSerSerAlaGlyPheArgAspPheGlnPheLysLysThrGlyAlaIleTyrAspAlaIleLeuAlaArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000750",
      "geneNCBI_id": 438,
      "geneSymbol": "ASMT",
      "hgvs": [
        "ENST00000381241.8:c.87C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370639.3:p.Cys29Ter",
        "hgvsWellDefined": "ENSP00000370639.3:p.Cys29_Lys373delinsGluLeuGlyValPheAspLeuLeuAlaGluAlaProGlyProLeuAspValAlaAlaValAlaAlaGlyValArgAlaSerAlaHisGlyThrGluLeuLeuLeuAspIleCysValSerLeuLysLeuLeuLysValGluThrArgGlyGlyLysAlaPheTyrArgAsnThrGluLeuSerSerAspTyrLeuThrThrValSerProThrSerGlnCysSerMetLeuLysTyrMetGlyArgThrSerTyrArgCysTrpGlyHisLeuAlaAspAlaValArgGluGlyArgAsnGlnTyrLeuGluThrPheGlyValProAlaGluGluLeuPheThrAlaIleTyrArgSerGluGlyGluArgLeuGlnPheMetGlnAlaLeuGlnGluValTrpSerValAsnGlyArgSerValLeuThrAlaPheAspLeuSerValPheProLeuMetCysAspLeuGlyGlyThrTrpIleLysLeuGluThrIleIleLeuSerLysLeuSerGlnGlyGlnLysThrLysHisArgValPheSerLeuIleGlyGlyAlaGlyAlaLeuAlaLysGluCysMetSerLeuTyrProGlyCysLysIleThrValPheAspIleProGluValValTrpThrAlaLysGlnHisPheSerPheGlnGluGluGluGlnIleAspPheGlnGluGlyAspPhePheLysAspProLeuProGluAlaAspLeuTyrIleLeuAlaArgValLeuHisAspTrpAlaAspGlyLysCysSerHisLeuLeuGluArgIleTyrHisThrCysLysProGlyGlyGlyIleLeuValIleGluSerLeuLeuAspGluAspArgArgGlyProLeuLeuThrGlnLeuTyrSerLeuAsnMetLeuValGlnThrGluGlyGlnGluArgThrProThrHisTyrHisMetLeuLeuSerSerAlaGlyPheArgAspPheGlnPheLysLysThrGlyAlaIleTyrAspAlaIleLeuAlaArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273279"
    }
  ],
  "type": "nucleotide"
}