{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA120959", "communityStandardTitle": [ "NM_001360016.2(G6PD):c.1178G>A (p.Arg393His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25409[alleleid]", "alleleId": 25409, "preferredName": "NM_000402.4(G6PD):c.1268G>A (p.Arg423His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10370", "RCV": [ "RCV000011090", "RCV000030890", "RCV000030891", "RCV000066231", "RCV000756196", "RCV003480028" ], "variationId": 10370 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153760891C>T?assembly=hg19", "id": "chrX:g.153760891C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.154532676C>T?assembly=hg38", "id": "chrX:g.154532676C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/137852316", "rs": 137852316 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 154532676, "referenceAllele": "C", "start": 154532675 } ], "hgvs": [ "NC_000023.11:g.154532676C>T", "CM000685.2:g.154532676C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 153760891, "referenceAllele": "C", "start": 153760890 } ], "hgvs": [ "NC_000023.10:g.153760891C>T", "CM000685.1:g.153760891C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 153414085, "referenceAllele": "C", "start": 153414084 } ], "hgvs": [ "NC_000023.9:g.153414085C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 19897, "referenceAllele": "G", "start": 19896 } ], "hgvs": [ "NG_009015.2:g.19897G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001380" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000393564.7:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000377194.2:p.Arg393His", "hgvsWellDefined": "ENSP00000377194.2:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS904600" }, { "coordinates": [ { "allele": "A", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000439227.6:c.1181G>A" ], "proteinEffect": { "hgvs": "ENSP00000395599.2:p.Arg394His", "hgvsWellDefined": "ENSP00000395599.2:p.Arg394His" }, "referenceSequence": "http://reg.genome.network/refseq/RS904902" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696420.1:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000512615.1:p.Arg393His", "hgvsWellDefined": "ENSP00000512615.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS907877" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696421.1:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000512616.1:p.Arg393His", "hgvsWellDefined": "ENSP00000512616.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS907878" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696422.1:c.1041G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS907879" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696423.1:c.1044G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS907880" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696424.1:c.1030G>A" ], "proteinEffect": { "hgvs": "ENSP00000512619.1:n.1030G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907881" }, { "coordinates": [ { "allele": "A", "end": 1055, "referenceAllele": "G", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696425.1:c.*91G>A" ], "proteinEffect": { "hgvs": "ENSP00000512620.1:n.*91G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907882" }, { "coordinates": [ { "allele": "A", "end": 1659, "referenceAllele": "G", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696426.1:c.*638G>A" ], "proteinEffect": { "hgvs": "ENSP00000512621.1:n.*638G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907883" }, { "coordinates": [ { "allele": "A", "end": 1231, "referenceAllele": "G", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696427.1:c.*138G>A" ], "proteinEffect": { "hgvs": "ENSP00000512622.1:n.*138G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907884" }, { "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "G", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696428.1:c.*1020G>A" ], "proteinEffect": { "hgvs": "ENSP00000512623.1:n.*1020G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS907885" }, { "coordinates": [ { "allele": "A", "end": 1387, "referenceAllele": "G", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696429.1:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000512624.1:p.Arg393His", "hgvsWellDefined": "ENSP00000512624.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS907886" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000696430.1:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000512625.1:p.Arg393His", "hgvsWellDefined": "ENSP00000512625.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS907887" }, { "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000393562.10:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000377192.3:p.Arg393His", "hgvsWellDefined": "ENSP00000377192.3:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753138", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393562.10:c.1178G>A" }, "RefSeq": { "hgvs": "NM_001360016.2:c.1178G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377192.3:p.Arg393His" }, "RefSeq": { "hgvs": "NP_001346945.1:p.Arg393His" } } } }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000369620.6:c.1316G>A" ], "proteinEffect": { "hgvs": "ENSP00000358633.2:p.Arg439His", "hgvsWellDefined": "ENSP00000358633.2:p.Arg439His" }, "referenceSequence": "http://reg.genome.network/refseq/RS267612" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "G", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000393562.6:c.1268G>A" ], "proteinEffect": { "hgvs": "ENSP00000377192.2:p.Arg423His", "hgvsWellDefined": "ENSP00000377192.2:p.Arg423His" }, "referenceSequence": "http://reg.genome.network/refseq/RS275692" }, { "coordinates": [ { "allele": "A", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000393564.6:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000377194.2:p.Arg393His", "hgvsWellDefined": "ENSP00000377194.2:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS275693" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000490651.1:n.399G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328417" }, { "coordinates": [ { "allele": "A", "end": 1652, "referenceAllele": "G", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "ENST00000621232.4:c.1178G>A" ], "proteinEffect": { "hgvs": "ENSP00000483686.1:p.Arg393His", "hgvsWellDefined": "ENSP00000483686.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS405180" }, { "@id": "http://reg.genome.network/allele/PA120960", "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "G", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "NM_000402.4:c.1268G>A" ], "proteinEffect": { "hgvs": "NP_000393.4:p.Arg423His", "hgvsWellDefined": "NP_000393.4:p.Arg423His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006463" }, { "@id": "http://reg.genome.network/allele/PA094849", "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "NM_001042351.2:c.1178G>A" ], "proteinEffect": { "hgvs": "NP_001035810.1:p.Arg393His", "hgvsWellDefined": "NP_001035810.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009645" }, { "coordinates": [ { "allele": "A", "end": 1414, "referenceAllele": "G", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "XM_005274657.2:c.1271G>A" ], "proteinEffect": { "hgvs": "XP_005274714.1:p.Arg424His", "hgvsWellDefined": "XP_005274714.1:p.Arg424His" }, "referenceSequence": "http://reg.genome.network/refseq/RS068029" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "XM_005274658.2:c.1181G>A" ], "proteinEffect": { "hgvs": "XP_005274715.1:p.Arg394His", "hgvsWellDefined": "XP_005274715.1:p.Arg394His" }, "referenceSequence": "http://reg.genome.network/refseq/RS068030" }, { "coordinates": [ { "allele": "A", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "XM_011531132.1:c.*91G>A" ], "proteinEffect": { "hgvs": "XP_011529434.1:n.*91G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS098173" }, { "@id": "http://reg.genome.network/allele/PA2828058142", "coordinates": [ { "allele": "A", "end": 1244, "referenceAllele": "G", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "NM_001360016.2:c.1178G>A" ], "proteinEffect": { "hgvs": "NP_001346945.1:p.Arg393His", "hgvsWellDefined": "NP_001346945.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522989", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393562.10:c.1178G>A" }, "RefSeq": { "hgvs": "NM_001360016.2:c.1178G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377192.3:p.Arg393His" }, "RefSeq": { "hgvs": "NP_001346945.1:p.Arg393His" } } } }, { "@id": "http://reg.genome.network/allele/PA094849", "coordinates": [ { "allele": "A", "end": 1288, "referenceAllele": "G", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN004057", "geneNCBI_id": 2539, "geneSymbol": "G6PD", "hgvs": [ "NM_001042351.3:c.1178G>A" ], "proteinEffect": { "hgvs": "NP_001035810.1:p.Arg393His", "hgvsWellDefined": "NP_001035810.1:p.Arg393His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676000" } ], "type": "nucleotide" }