{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA315756",
  "communityStandardTitle": [
    "NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201773[alleleid]",
        "alleleId": 201773,
        "preferredName": "NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206048",
        "RCV": [
          "RCV000188057",
          "RCV000822700",
          "RCV002516996"
        ],
        "variationId": 206048
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-39469166-A-G",
        "id": "4-39469166-A-G",
        "variant": "4:39469166 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.39469166A>G?assembly=hg19",
        "id": "chr4:g.39469166A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.39467546A>G?assembly=hg38",
        "id": "chr4:g.39467546A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374709255",
        "rs": 374709255
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-39469166-A-G?dataset=gnomad_r2_1",
        "id": "4-39469166-A-G",
        "variant": "4:39469166 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-39467546-A-G?dataset=gnomad_r3",
        "id": "4-39467546-A-G",
        "variant": "4:39467546 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-39467546-A-G?dataset=gnomad_r4",
        "id": "4-39467546-A-G",
        "variant": "4:39467546 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 39467546,
          "referenceAllele": "A",
          "start": 39467545
        }
      ],
      "hgvs": [
        "NC_000004.12:g.39467546A>G",
        "CM000666.2:g.39467546A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 39469166,
          "referenceAllele": "A",
          "start": 39469165
        }
      ],
      "hgvs": [
        "NC_000004.11:g.39469166A>G",
        "CM000666.1:g.39469166A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 39145561,
          "referenceAllele": "A",
          "start": 39145560
        }
      ],
      "hgvs": [
        "NC_000004.10:g.39145561A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13502,
          "referenceAllele": "A",
          "start": 13501
        }
      ],
      "hgvs": [
        "NG_032111.1:g.13502A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005127"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000261434.8:c.328A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261434.4:p.Thr110Ala",
        "hgvsWellDefined": "ENSP00000261434.4:p.Thr110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "A",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000340169.7:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340676.2:p.Thr213Ala",
        "hgvsWellDefined": "ENSP00000340676.2:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "endIntronDirection": "+",
          "endIntronOffset": 2204,
          "referenceAllele": "A",
          "start": 663,
          "startIntronDirection": "+",
          "startIntronOffset": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000381846.2:c.608+2204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371270.1:n.608+2204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "referenceAllele": "A",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000513731.6:c.247A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425580.1:p.Thr83Ala",
        "hgvsWellDefined": "ENSP00000425580.1:p.Thr83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000638422.1:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491001.1:p.Thr213Ala",
        "hgvsWellDefined": "ENSP00000491001.1:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000638430.1:c.334A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764526"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 2472,
          "referenceAllele": "A",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000638451.1:c.300-2473A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491681.1:n.300-2473A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000638816.1:c.351A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492482.1:n.351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000639422.1:c.422A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491899.1:p.Tyr141Cys",
        "hgvsWellDefined": "ENSP00000491899.1:p.Tyr141Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000640349.1:c.523A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491477.1:p.Thr175Ala",
        "hgvsWellDefined": "ENSP00000491477.1:p.Thr175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "A",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000640381.1:n.697A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 2204,
          "referenceAllele": "A",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000640672.1:c.368+2204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492203.1:n.368+2204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "A",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000640689.1:c.*240A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491591.1:n.*240A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 699,
          "referenceAllele": "A",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000640888.2:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492260.1:p.Thr213Ala",
        "hgvsWellDefined": "ENSP00000492260.1:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765716",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640888.2:c.637A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006859.4:c.637A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492260.1:p.Thr213Ala"
          },
          "RefSeq": {
            "hgvs": "NP_006850.2:p.Thr213Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "A",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000261434.7:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261434.3:p.Thr213Ala",
        "hgvsWellDefined": "ENSP00000261434.3:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "A",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000340169.6:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340676.2:p.Thr213Ala",
        "hgvsWellDefined": "ENSP00000340676.2:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "endIntronDirection": "+",
          "endIntronOffset": 2204,
          "referenceAllele": "A",
          "start": 654,
          "startIntronDirection": "+",
          "startIntronOffset": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000381846.1:c.608+2204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371270.1:n.608+2204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "referenceAllele": "A",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "ENST00000513731.5:c.247A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425580.1:p.Thr83Ala",
        "hgvsWellDefined": "ENSP00000425580.1:p.Thr83Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "endIntronDirection": "+",
          "endIntronOffset": 2204,
          "referenceAllele": "A",
          "start": 702,
          "startIntronDirection": "+",
          "startIntronOffset": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_001278590.1:c.608+2204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265519.1:n.608+2204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315757",
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_006859.3:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006850.2:p.Thr213Ala",
        "hgvsWellDefined": "NP_006850.2:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054553",
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_194451.2:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919433.1:p.Thr213Ala",
        "hgvsWellDefined": "NP_919433.1:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "endIntronDirection": "-",
          "endIntronOffset": 2472,
          "referenceAllele": "A",
          "start": 392,
          "startIntronDirection": "-",
          "startIntronOffset": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "XM_006713990.2:c.300-2473A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714053.1:n.300-2473A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104044",
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "A",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_001363700.1:c.328A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350629.1:p.Thr110Ala",
        "hgvsWellDefined": "NP_001350629.1:p.Thr110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "endIntronDirection": "-",
          "endIntronOffset": 2472,
          "referenceAllele": "A",
          "start": 395,
          "startIntronDirection": "-",
          "startIntronOffset": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "XM_006713990.3:c.300-2473A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714053.1:n.300-2473A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 2204,
          "referenceAllele": "A",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "XM_017007665.2:c.608+2204A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863154.1:n.608+2204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "A",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "XR_001741096.2:n.725A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "endIntronDirection": "+",
          "endIntronOffset": 2204,
          "referenceAllele": "A",
          "start": 670,
          "startIntronDirection": "+",
          "startIntronOffset": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_001278590.2:c.608+2204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265519.1:n.608+2204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104044",
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "A",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_001363700.2:c.328A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350629.1:p.Thr110Ala",
        "hgvsWellDefined": "NP_001350629.1:p.Thr110Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315757",
      "coordinates": [
        {
          "allele": "G",
          "end": 699,
          "referenceAllele": "A",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_006859.4:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006850.2:p.Thr213Ala",
        "hgvsWellDefined": "NP_006850.2:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000640888.2:c.637A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006859.4:c.637A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000492260.1:p.Thr213Ala"
          },
          "RefSeq": {
            "hgvs": "NP_006850.2:p.Thr213Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054553",
      "coordinates": [
        {
          "allele": "G",
          "end": 699,
          "referenceAllele": "A",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016429",
      "geneNCBI_id": 11019,
      "geneSymbol": "LIAS",
      "hgvs": [
        "NM_194451.3:c.637A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919433.1:p.Thr213Ala",
        "hgvsWellDefined": "NP_919433.1:p.Thr213Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701222"
    }
  ],
  "type": "nucleotide"
}