{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356765057", "communityStandardTitle": [ "NM_021927.3(GUF1):c.1825G>A (p.Ala609Thr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.44697741G>A?assembly=hg19", "id": "chr4:g.44697741G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.44695724G>A?assembly=hg38", "id": "chr4:g.44695724G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/879255631", "rs": 879255631 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-44695724-G-A?dataset=gnomad_r4", "id": "4-44695724-G-A", "variant": "4:44695724 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 44695724, "referenceAllele": "G", "start": 44695723 } ], "hgvs": [ "NC_000004.12:g.44695724G>A", "CM000666.2:g.44695724G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 44697741, "referenceAllele": "G", "start": 44697740 } ], "hgvs": [ "NC_000004.11:g.44697741G>A", "CM000666.1:g.44697741G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 44392498, "referenceAllele": "G", "start": 44392497 } ], "hgvs": [ "NC_000004.10:g.44392498G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 22330, "referenceAllele": "G", "start": 22329 } ], "hgvs": [ "NG_051569.1:g.22330G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616988" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2028, "referenceAllele": "G", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "ENST00000281543.6:c.1825G>A" ], "proteinEffect": { "hgvs": "ENSP00000281543.5:p.Ala609Thr", "hgvsWellDefined": "ENSP00000281543.5:p.Ala609Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS743614", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000281543.6:c.1825G>A" }, "RefSeq": { "hgvs": "NM_021927.3:c.1825G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000281543.5:p.Ala609Thr" }, "RefSeq": { "hgvs": "NP_068746.2:p.Ala609Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 2019, "referenceAllele": "G", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "ENST00000281543.5:c.1825G>A" ], "proteinEffect": { "hgvs": "ENSP00000281543.5:p.Ala609Thr", "hgvsWellDefined": "ENSP00000281543.5:p.Ala609Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS253009" }, { "coordinates": [ { "allele": "A", "end": 1707, "referenceAllele": "G", "start": 1706 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "ENST00000506793.5:n.1707G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS338257" }, { "coordinates": [ { "allele": "A", "end": 105, "endIntronDirection": "+", "endIntronOffset": 1211, "referenceAllele": "G", "start": 105, "startIntronDirection": "+", "startIntronOffset": 1210 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "ENST00000511493.1:n.105+1211G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341748" }, { "coordinates": [ { "allele": "T", "end": 127, "endIntronDirection": "+", "endIntronOffset": 12028, "referenceAllele": "C", "start": 127, "startIntronDirection": "+", "startIntronOffset": 12027 } ], "gene": "http://reg.genome.network/gene/GN021526", "geneNCBI_id": 132789, "geneSymbol": "GNPDA2", "hgvs": [ "ENST00000608855.1:c.127+12028C>T" ], "proteinEffect": { "hgvs": "ENSP00000477137.1:n.127+12028C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS400117" }, { "coordinates": [ { "allele": "T", "end": 246, "endIntronDirection": "+", "endIntronOffset": 12028, "referenceAllele": "C", "start": 246, "startIntronDirection": "+", "startIntronOffset": 12027 } ], "gene": "http://reg.genome.network/gene/GN021526", "geneNCBI_id": 132789, "geneSymbol": "GNPDA2", "hgvs": [ "ENST00000609092.5:c.246+12028C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS400163" }, { "@id": "http://reg.genome.network/allele/PA3070233734", "coordinates": [ { "allele": "A", "end": 2032, "referenceAllele": "G", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_021927.2:c.1825G>A" ], "proteinEffect": { "hgvs": "NP_068746.2:p.Ala609Thr", "hgvsWellDefined": "NP_068746.2:p.Ala609Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS037079" }, { "coordinates": [ { "allele": "A", "end": 1886, "referenceAllele": "G", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "XM_005248122.2:c.853G>A" ], "proteinEffect": { "hgvs": "XP_005248179.1:p.Ala285Thr", "hgvsWellDefined": "XP_005248179.1:p.Ala285Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS058315" }, { "coordinates": [ { "allele": "T", "end": 922, "endIntronDirection": "+", "endIntronOffset": 12028, "referenceAllele": "C", "start": 922, "startIntronDirection": "+", "startIntronOffset": 12027 } ], "gene": "http://reg.genome.network/gene/GN021526", "geneNCBI_id": 132789, "geneSymbol": "GNPDA2", "hgvs": [ "XM_011513625.1:c.769+12028C>T" ], "proteinEffect": { "hgvs": "XP_011511927.1:n.769+12028C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS080863" }, { "coordinates": [ { "allele": "T", "end": 695, "endIntronDirection": "+", "endIntronOffset": 12028, "referenceAllele": "C", "start": 695, "startIntronDirection": "+", "startIntronOffset": 12027 } ], "gene": "http://reg.genome.network/gene/GN021526", "geneNCBI_id": 132789, "geneSymbol": "GNPDA2", "hgvs": [ "XM_011513626.1:c.559+12028C>T" ], "proteinEffect": { "hgvs": "XP_011511928.1:n.559+12028C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS080864" }, { "coordinates": [ { "allele": "A", "end": 1943, "endIntronDirection": "+", "endIntronOffset": 1211, "referenceAllele": "G", "start": 1943, "startIntronDirection": "+", "startIntronOffset": 1210 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "XM_011513732.1:c.1715+1211G>A" ], "proteinEffect": { "hgvs": "XP_011512034.1:n.1715+1211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS080964" }, { "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "G", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "XM_011513733.1:c.1675G>A" ], "proteinEffect": { "hgvs": "XP_011512035.1:p.Ala559Thr", "hgvsWellDefined": "XP_011512035.1:p.Ala559Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080965" }, { "coordinates": [ { "allele": "A", "end": 2049, "referenceAllele": "G", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_001345867.1:c.853G>A" ], "proteinEffect": { "hgvs": "NP_001332796.1:p.Ala285Thr", "hgvsWellDefined": "NP_001332796.1:p.Ala285Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS517222" }, { "coordinates": [ { "allele": "A", "end": 1943, "endIntronDirection": "+", "endIntronOffset": 1211, "referenceAllele": "G", "start": 1943, "startIntronDirection": "+", "startIntronOffset": 1210 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_001345868.1:c.1715+1211G>A" ], "proteinEffect": { "hgvs": "NP_001332797.1:n.1715+1211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS517223" }, { "coordinates": [ { "allele": "A", "end": 1941, "referenceAllele": "G", "start": 1940 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_001345869.1:c.853G>A" ], "proteinEffect": { "hgvs": "NP_001332798.1:p.Ala285Thr", "hgvsWellDefined": "NP_001332798.1:p.Ala285Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS517224" }, { "coordinates": [ { "allele": "A", "end": 1815, "referenceAllele": "G", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "XM_024454178.1:c.1675G>A" ], "proteinEffect": { "hgvs": "XP_024309946.1:p.Ala559Thr", "hgvsWellDefined": "XP_024309946.1:p.Ala559Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS587548" }, { "@id": "http://reg.genome.network/allele/PA3070233734", "coordinates": [ { "allele": "A", "end": 2028, "referenceAllele": "G", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_021927.3:c.1825G>A" ], "proteinEffect": { "hgvs": "NP_068746.2:p.Ala609Thr", "hgvsWellDefined": "NP_068746.2:p.Ala609Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS670316", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000281543.6:c.1825G>A" }, "RefSeq": { "hgvs": "NM_021927.3:c.1825G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000281543.5:p.Ala609Thr" }, "RefSeq": { "hgvs": "NP_068746.2:p.Ala609Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "G", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_001345867.2:c.853G>A" ], "proteinEffect": { "hgvs": "NP_001332796.1:p.Ala285Thr", "hgvsWellDefined": "NP_001332796.1:p.Ala285Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS718814" }, { "coordinates": [ { "allele": "A", "end": 1918, "endIntronDirection": "+", "endIntronOffset": 1211, "referenceAllele": "G", "start": 1918, "startIntronDirection": "+", "startIntronOffset": 1210 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_001345868.2:c.1715+1211G>A" ], "proteinEffect": { "hgvs": "NP_001332797.1:n.1715+1211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS718815" }, { "coordinates": [ { "allele": "A", "end": 1916, "referenceAllele": "G", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN025799", "geneNCBI_id": 60558, "geneSymbol": "GUF1", "hgvs": [ "NM_001345869.2:c.853G>A" ], "proteinEffect": { "hgvs": "NP_001332798.1:p.Ala285Thr", "hgvsWellDefined": "NP_001332798.1:p.Ala285Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS718816" } ], "type": "nucleotide" }