{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA256047", "communityStandardTitle": [ "NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26775[alleleid]", "alleleId": 26775, "preferredName": "NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11736", "RCV": [ "RCV000012502" ], "variationId": 11736 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.76875910C>T?assembly=hg19", "id": "chrX:g.76875910C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.77620442C>T?assembly=hg38", "id": "chrX:g.77620442C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/122445104", "rs": 122445104 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 77620442, "referenceAllele": "C", "start": 77620441 } ], "hgvs": [ "NC_000023.11:g.77620442C>T", "CM000685.2:g.77620442C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 76875910, "referenceAllele": "C", "start": 76875909 } ], "hgvs": [ "NC_000023.10:g.76875910C>T", "CM000685.1:g.76875910C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 76762566, "referenceAllele": "C", "start": 76762565 } ], "hgvs": [ "NC_000023.9:g.76762566C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 170780, "referenceAllele": "G", "start": 170779 } ], "hgvs": [ "NG_008838.2:g.170780G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001233" }, { "coordinates": [ { "allele": "A", "end": 170828, "referenceAllele": "G", "start": 170827 } ], "hgvs": [ "NG_008838.3:g.170828G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616114" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5440, "referenceAllele": "G", "start": 5439 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.11:c.5225G>A" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Arg1742Lys", "hgvsWellDefined": "ENSP00000362441.4:p.Arg1742Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS751211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.5225G>A" }, "RefSeq": { "hgvs": "NM_000489.6:c.5225G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Arg1742Lys" }, "RefSeq": { "hgvs": "NP_000480.3:p.Arg1742Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000675732.1:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000502598.1:p.Arg108Lys", "hgvsWellDefined": "ENSP00000502598.1:p.Arg108Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775511" }, { "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "G", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000675908.1:n.960G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775668" }, { "coordinates": [ { "allele": "A", "end": 5493, "referenceAllele": "G", "start": 5492 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000373344.9:c.5225G>A" ], "proteinEffect": { "hgvs": "ENSP00000362441.4:p.Arg1742Lys", "hgvsWellDefined": "ENSP00000362441.4:p.Arg1742Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS269638" }, { "coordinates": [ { "allele": "A", "end": 5326, "referenceAllele": "G", "start": 5325 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000395603.7:c.5111G>A" ], "proteinEffect": { "hgvs": "ENSP00000378967.3:p.Arg1704Lys", "hgvsWellDefined": "ENSP00000378967.3:p.Arg1704Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS276784" }, { "coordinates": [ { "allele": "A", "end": 206, "referenceAllele": "G", "start": 205 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000400866.4:c.206G>A" ], "proteinEffect": { "hgvs": "ENSP00000383663.3:p.Arg69Lys", "hgvsWellDefined": "ENSP00000383663.3:p.Arg69Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS279132" }, { "coordinates": [ { "allele": "A", "end": 5563, "referenceAllele": "G", "start": 5562 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000480283.5:c.*4853G>A" ], "proteinEffect": { "hgvs": "ENSP00000480196.1:n.*4853G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS320467" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "ENST00000624403.1:n.569G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS406320" }, { "@id": "http://reg.genome.network/allele/PA256048", "coordinates": [ { "allele": "A", "end": 5493, "referenceAllele": "G", "start": 5492 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.4:c.5225G>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg1742Lys", "hgvsWellDefined": "NP_000480.3:p.Arg1742Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006543" }, { "@id": "http://reg.genome.network/allele/PA2830249971", "coordinates": [ { "allele": "A", "end": 5379, "referenceAllele": "G", "start": 5378 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.3:c.5111G>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg1704Lys", "hgvsWellDefined": "NP_612114.2:p.Arg1704Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS040611" }, { "coordinates": [ { "allele": "A", "end": 5490, "referenceAllele": "G", "start": 5489 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.3:c.5222G>A" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Arg1741Lys", "hgvsWellDefined": "XP_005262210.2:p.Arg1741Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS063345" }, { "coordinates": [ { "allele": "A", "end": 5406, "referenceAllele": "G", "start": 5405 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.3:c.5138G>A" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Arg1713Lys", "hgvsWellDefined": "XP_005262211.2:p.Arg1713Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS063346" }, { "coordinates": [ { "allele": "A", "end": 5594, "referenceAllele": "G", "start": 5593 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.3:c.5108G>A" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Arg1703Lys", "hgvsWellDefined": "XP_005262212.2:p.Arg1703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS063347" }, { "coordinates": [ { "allele": "A", "end": 5331, "referenceAllele": "G", "start": 5330 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.3:c.5060G>A" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Arg1687Lys", "hgvsWellDefined": "XP_005262213.2:p.Arg1687Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS063348" }, { "coordinates": [ { "allele": "A", "end": 5289, "referenceAllele": "G", "start": 5288 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.3:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Arg1674Lys", "hgvsWellDefined": "XP_005262214.2:p.Arg1674Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS063349" }, { "coordinates": [ { "allele": "A", "end": 5376, "referenceAllele": "G", "start": 5375 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.2:c.5108G>A" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Arg1703Lys", "hgvsWellDefined": "XP_006724729.1:p.Arg1703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS075648" }, { "coordinates": [ { "allele": "A", "end": 5214, "referenceAllele": "G", "start": 5213 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.2:c.4946G>A" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Arg1649Lys", "hgvsWellDefined": "XP_006724730.1:p.Arg1649Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS075649" }, { "coordinates": [ { "allele": "A", "end": 5493, "referenceAllele": "G", "start": 5492 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724668.2:c.5225G>A" ], "proteinEffect": { "hgvs": "XP_006724731.1:p.Arg1742Lys", "hgvsWellDefined": "XP_006724731.1:p.Arg1742Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS075650" }, { "coordinates": [ { "allele": "A", "end": 5493, "referenceAllele": "G", "start": 5492 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_938400.1:n.5493G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133098" }, { "@id": "http://reg.genome.network/allele/PA256048", "coordinates": [ { "allele": "A", "end": 5440, "referenceAllele": "G", "start": 5439 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.5:c.5225G>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg1742Lys", "hgvsWellDefined": "NP_000480.3:p.Arg1742Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510800" }, { "coordinates": [ { "allele": "A", "end": 5437, "referenceAllele": "G", "start": 5436 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262153.5:c.5222G>A" ], "proteinEffect": { "hgvs": "XP_005262210.2:p.Arg1741Lys", "hgvsWellDefined": "XP_005262210.2:p.Arg1741Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS535419" }, { "coordinates": [ { "allele": "A", "end": 5363, "referenceAllele": "G", "start": 5362 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262154.5:c.5138G>A" ], "proteinEffect": { "hgvs": "XP_005262211.2:p.Arg1713Lys", "hgvsWellDefined": "XP_005262211.2:p.Arg1713Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS535420" }, { "coordinates": [ { "allele": "A", "end": 5594, "referenceAllele": "G", "start": 5593 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262155.4:c.5108G>A" ], "proteinEffect": { "hgvs": "XP_005262212.2:p.Arg1703Lys", "hgvsWellDefined": "XP_005262212.2:p.Arg1703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS535421" }, { "coordinates": [ { "allele": "A", "end": 5346, "referenceAllele": "G", "start": 5345 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262156.4:c.5060G>A" ], "proteinEffect": { "hgvs": "XP_005262213.2:p.Arg1687Lys", "hgvsWellDefined": "XP_005262213.2:p.Arg1687Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS535422" }, { "coordinates": [ { "allele": "A", "end": 5246, "referenceAllele": "G", "start": 5245 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_005262157.5:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_005262214.2:p.Arg1674Lys", "hgvsWellDefined": "XP_005262214.2:p.Arg1674Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS535423" }, { "coordinates": [ { "allele": "A", "end": 5333, "referenceAllele": "G", "start": 5332 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724666.4:c.5108G>A" ], "proteinEffect": { "hgvs": "XP_006724729.1:p.Arg1703Lys", "hgvsWellDefined": "XP_006724729.1:p.Arg1703Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS541034" }, { "coordinates": [ { "allele": "A", "end": 5232, "referenceAllele": "G", "start": 5231 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724667.3:c.4946G>A" ], "proteinEffect": { "hgvs": "XP_006724730.1:p.Arg1649Lys", "hgvsWellDefined": "XP_006724730.1:p.Arg1649Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS541035" }, { "coordinates": [ { "allele": "A", "end": 5450, "referenceAllele": "G", "start": 5449 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_006724668.3:c.5225G>A" ], "proteinEffect": { "hgvs": "XP_006724731.1:p.Arg1742Lys", "hgvsWellDefined": "XP_006724731.1:p.Arg1742Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS541036" }, { "coordinates": [ { "allele": "A", "end": 5360, "referenceAllele": "G", "start": 5359 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029601.2:c.5135G>A" ], "proteinEffect": { "hgvs": "XP_016885090.1:p.Arg1712Lys", "hgvsWellDefined": "XP_016885090.1:p.Arg1712Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579117" }, { "coordinates": [ { "allele": "A", "end": 5574, "referenceAllele": "G", "start": 5573 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029602.1:c.5105G>A" ], "proteinEffect": { "hgvs": "XP_016885091.1:p.Arg1702Lys", "hgvsWellDefined": "XP_016885091.1:p.Arg1702Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579118" }, { "coordinates": [ { "allele": "A", "end": 5343, "referenceAllele": "G", "start": 5342 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029603.1:c.5057G>A" ], "proteinEffect": { "hgvs": "XP_016885092.1:p.Arg1686Lys", "hgvsWellDefined": "XP_016885092.1:p.Arg1686Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579119" }, { "coordinates": [ { "allele": "A", "end": 5249, "referenceAllele": "G", "start": 5248 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029604.2:c.5024G>A" ], "proteinEffect": { "hgvs": "XP_016885093.1:p.Arg1675Lys", "hgvsWellDefined": "XP_016885093.1:p.Arg1675Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579120" }, { "coordinates": [ { "allele": "A", "end": 5507, "referenceAllele": "G", "start": 5506 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029605.1:c.5021G>A" ], "proteinEffect": { "hgvs": "XP_016885094.1:p.Arg1674Lys", "hgvsWellDefined": "XP_016885094.1:p.Arg1674Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579121" }, { "coordinates": [ { "allele": "A", "end": 5467, "referenceAllele": "G", "start": 5466 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029606.2:c.4994G>A" ], "proteinEffect": { "hgvs": "XP_016885095.1:p.Arg1665Lys", "hgvsWellDefined": "XP_016885095.1:p.Arg1665Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579122" }, { "coordinates": [ { "allele": "A", "end": 5460, "referenceAllele": "G", "start": 5459 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029607.2:c.4991G>A" ], "proteinEffect": { "hgvs": "XP_016885096.1:p.Arg1664Lys", "hgvsWellDefined": "XP_016885096.1:p.Arg1664Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579123" }, { "coordinates": [ { "allele": "A", "end": 5151, "referenceAllele": "G", "start": 5150 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029608.2:c.4943G>A" ], "proteinEffect": { "hgvs": "XP_016885097.1:p.Arg1648Lys", "hgvsWellDefined": "XP_016885097.1:p.Arg1648Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579124" }, { "coordinates": [ { "allele": "A", "end": 5393, "referenceAllele": "G", "start": 5392 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029609.1:c.4907G>A" ], "proteinEffect": { "hgvs": "XP_016885098.1:p.Arg1636Lys", "hgvsWellDefined": "XP_016885098.1:p.Arg1636Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579125" }, { "coordinates": [ { "allele": "A", "end": 5390, "referenceAllele": "G", "start": 5389 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029610.1:c.4904G>A" ], "proteinEffect": { "hgvs": "XP_016885099.1:p.Arg1635Lys", "hgvsWellDefined": "XP_016885099.1:p.Arg1635Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579126" }, { "coordinates": [ { "allele": "A", "end": 5145, "referenceAllele": "G", "start": 5144 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XM_017029611.1:c.4859G>A" ], "proteinEffect": { "hgvs": "XP_016885100.1:p.Arg1620Lys", "hgvsWellDefined": "XP_016885100.1:p.Arg1620Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS579127" }, { "coordinates": [ { "allele": "A", "end": 5450, "referenceAllele": "G", "start": 5449 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "XR_001755700.2:n.5450G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS601333" }, { "@id": "http://reg.genome.network/allele/PA2830249971", "coordinates": [ { "allele": "A", "end": 5326, "referenceAllele": "G", "start": 5325 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.4:c.5111G>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg1704Lys", "hgvsWellDefined": "NP_612114.2:p.Arg1704Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS699696" }, { "@id": "http://reg.genome.network/allele/PA256048", "coordinates": [ { "allele": "A", "end": 5440, "referenceAllele": "G", "start": 5439 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_000489.6:c.5225G>A" ], "proteinEffect": { "hgvs": "NP_000480.3:p.Arg1742Lys", "hgvsWellDefined": "NP_000480.3:p.Arg1742Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS710838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000373344.11:c.5225G>A" }, "RefSeq": { "hgvs": "NM_000489.6:c.5225G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000362441.4:p.Arg1742Lys" }, "RefSeq": { "hgvs": "NP_000480.3:p.Arg1742Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2830249971", "coordinates": [ { "allele": "A", "end": 5326, "referenceAllele": "G", "start": 5325 } ], "gene": "http://reg.genome.network/gene/GN000886", "geneNCBI_id": 546, "geneSymbol": "ATRX", "hgvs": [ "NM_138270.5:c.5111G>A" ], "proteinEffect": { "hgvs": "NP_612114.2:p.Arg1704Lys", "hgvsWellDefined": "NP_612114.2:p.Arg1704Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS729130" } ], "type": "nucleotide" }