{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373323874", "communityStandardTitle": [ "NM_032634.4(PIGO):c.625A>T (p.Asn209Tyr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.35094243T>A?assembly=hg19", "id": "chr9:g.35094243T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.35094246T>A?assembly=hg38", "id": "chr9:g.35094246T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/765563969", "rs": 765563969 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-35094246-T-A?dataset=gnomad_r4", "id": "9-35094246-T-A", "variant": "9:35094246 T / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 35094246, "referenceAllele": "T", "start": 35094245 } ], "hgvs": [ "NC_000009.12:g.35094246T>A", "CM000671.2:g.35094246T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 35094243, "referenceAllele": "T", "start": 35094242 } ], "hgvs": [ "NC_000009.11:g.35094243T>A", "CM000671.1:g.35094243T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 35084243, "referenceAllele": "T", "start": 35084242 } ], "hgvs": [ "NC_000009.10:g.35084243T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 7356, "referenceAllele": "A", "start": 7355 } ], "hgvs": [ "NG_031990.1:g.7356A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005081" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000361778.7:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000354678.2:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000354678.2:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS904476" }, { "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "A", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700254.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514892.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514892.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911081" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700255.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514893.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514893.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911082" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700256.1:n.657A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911083" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700257.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514894.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514894.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911084" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700259.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514895.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514895.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911086" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "A", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700260.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514896.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514896.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911087" }, { "coordinates": [ { "allele": "T", "end": 654, "referenceAllele": "A", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700261.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514897.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514897.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911088" }, { "coordinates": [ { "allele": "T", "end": 671, "referenceAllele": "A", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700262.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514898.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514898.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911089" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "A", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700263.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514899.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514899.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911090" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700264.1:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000514900.1:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000514900.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS911091" }, { "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "A", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000378617.4:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000367880.3:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000367880.3:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378617.4:c.625A>T" }, "RefSeq": { "hgvs": "NM_032634.4:c.625A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367880.3:p.Asn209Tyr" }, "RefSeq": { "hgvs": "NP_116023.2:p.Asn209Tyr" } } } }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "A", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000298004.9:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000298004.5:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000298004.5:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS254540" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "A", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000361778.6:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000354678.2:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000354678.2:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS265650" }, { "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "A", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000378617.3:c.625A>T" ], "proteinEffect": { "hgvs": "ENSP00000367880.3:p.Asn209Tyr", "hgvsWellDefined": "ENSP00000367880.3:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS272119" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "A", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000465745.6:n.642A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS309284" }, { "coordinates": [ { "allele": "T", "end": 726, "referenceAllele": "A", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000472208.1:n.726A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS314241" }, { "coordinates": [ { "allele": "T", "end": 1610, "referenceAllele": "A", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000474436.1:n.1610A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS315960" }, { "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "A", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_001201484.1:c.625A>T" ], "proteinEffect": { "hgvs": "NP_001188413.1:p.Asn209Tyr", "hgvsWellDefined": "NP_001188413.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS017358" }, { "@id": "http://reg.genome.network/allele/PA3075879526", "coordinates": [ { "allele": "T", "end": 1021, "referenceAllele": "A", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_032634.3:c.625A>T" ], "proteinEffect": { "hgvs": "NP_116023.2:p.Asn209Tyr", "hgvsWellDefined": "NP_116023.2:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS039231" }, { "coordinates": [ { "allele": "T", "end": 667, "referenceAllele": "A", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_152850.3:c.625A>T" ], "proteinEffect": { "hgvs": "NP_690577.2:p.Asn209Tyr", "hgvsWellDefined": "NP_690577.2:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS042171" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "A", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_005251619.2:c.625A>T" ], "proteinEffect": { "hgvs": "XP_005251676.1:p.Asn209Tyr", "hgvsWellDefined": "XP_005251676.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS059605" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "A", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_011518056.1:c.625A>T" ], "proteinEffect": { "hgvs": "XP_011516358.1:p.Asn209Tyr", "hgvsWellDefined": "XP_011516358.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS085237" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "A", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_242515.1:n.646A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116292" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "A", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_005251619.3:c.625A>T" ], "proteinEffect": { "hgvs": "XP_005251676.1:p.Asn209Tyr", "hgvsWellDefined": "XP_005251676.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS533632" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "A", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015222.2:c.625A>T" ], "proteinEffect": { "hgvs": "XP_016870711.1:p.Asn209Tyr", "hgvsWellDefined": "XP_016870711.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS567997" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "A", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015223.1:c.625A>T" ], "proteinEffect": { "hgvs": "XP_016870712.1:p.Asn209Tyr", "hgvsWellDefined": "XP_016870712.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS567998" }, { "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "A", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015224.1:c.625A>T" ], "proteinEffect": { "hgvs": "XP_016870713.1:p.Asn209Tyr", "hgvsWellDefined": "XP_016870713.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS567999" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "A", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_001746390.1:n.1048A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594718" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "A", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_001746391.2:n.646A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594719" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "A", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_242515.3:n.646A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605917" }, { "@id": "http://reg.genome.network/allele/PA3075879526", "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "A", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_032634.4:c.625A>T" ], "proteinEffect": { "hgvs": "NP_116023.2:p.Asn209Tyr", "hgvsWellDefined": "NP_116023.2:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS699161", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378617.4:c.625A>T" }, "RefSeq": { "hgvs": "NM_032634.4:c.625A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367880.3:p.Asn209Tyr" }, "RefSeq": { "hgvs": "NP_116023.2:p.Asn209Tyr" } } } }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "A", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_001201484.2:c.625A>T" ], "proteinEffect": { "hgvs": "NP_001188413.1:p.Asn209Tyr", "hgvsWellDefined": "NP_001188413.1:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS714068" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_152850.4:c.625A>T" ], "proteinEffect": { "hgvs": "NP_690577.2:p.Asn209Tyr", "hgvsWellDefined": "NP_690577.2:p.Asn209Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS729432" } ], "type": "nucleotide" }