Canonical Allele Identifier: CA257423
Gene: GLUD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16121
ClinVar RCV Id: RCV000017501 RCV000760160
dbSNP Id: rs121909730
MyVariant Identifiers: chr10:g.88813137G>A (hg19) chr10:g.87053380G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87053380G>A , CM000672.2:g.87053380G>A GRCh38
NC_000010.10:g.88813137G>A , CM000672.1:g.88813137G>A GRCh37
NC_000010.9:g.88803117G>A NCBI36
NG_013010.1:g.46640C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000474574.2:n.3094C>T
ENST00000487058.2:n.1266C>T
ENST00000681987.1:n.1357C>T
ENST00000681988.1:c.1018C>T ENSP00000507316.1:p.His340Tyr
ENST00000682396.1:c.1510C>T ENSP00000506764.1:n.1510C>T
ENST00000682507.1:c.1018C>T ENSP00000508098.1:p.His340Tyr
ENST00000682622.1:c.1799C>T ENSP00000506732.1:n.1799C>T
ENST00000682833.1:c.1354C>T
ENST00000683022.1:c.1540C>T
ENST00000683256.1:c.1018C>T ENSP00000507901.1:p.His340Tyr
ENST00000683269.1:c.1018C>T ENSP00000508107.1:p.His340Tyr
ENST00000683647.1:n.4853C>T
ENST00000683649.1:n.369C>T
ENST00000683783.1:c.1018C>T ENSP00000507881.1:p.His340Tyr
ENST00000683813.1:n.1247C>T
ENST00000684032.1:c.1374C>T ENSP00000506969.1:n.1374C>T
ENST00000684201.1:c.1243C>T ENSP00000507887.1:p.His415Tyr
ENST00000684338.1:c.1519C>T ENSP00000507457.1:p.His507Tyr
ENST00000684372.1:c.1018C>T ENSP00000508244.1:p.His340Tyr
ENST00000684434.1:c.990C>T
ENST00000684546.1:c.1018C>T ENSP00000507729.1:p.His340Tyr
ENST00000684665.1:n.483C>T
ENST00000684690.1:n.1746C>T
ENST00000684699.1:n.4098C>T
ENST00000277865.5:c.1519C>T MANE Select ENSP00000277865.4:p.His507Tyr
ENST00000277865.4:c.1519C>T ENSP00000277865.4:p.His507Tyr
NM_005271.3:c.1519C>T NP_005262.1:p.His507Tyr
XM_011539668.1:c.1018C>T XP_011537970.1:p.His340Tyr
XM_011539669.1:c.1018C>T XP_011537971.1:p.His340Tyr
NM_001318900.1:c.1120C>T NP_001305829.1:p.His374Tyr
NM_001318901.1:c.1018C>T NP_001305830.1:p.His340Tyr
NM_001318902.1:c.1018C>T NP_001305831.1:p.His340Tyr
NM_001318904.1:c.1018C>T NP_001305833.1:p.His340Tyr
NM_001318905.1:c.1018C>T NP_001305834.1:p.His340Tyr
NM_001318906.1:c.1018C>T NP_001305835.1:p.His340Tyr
NM_005271.4:c.1519C>T NP_005262.1:p.His507Tyr
NM_005271.5:c.1519C>T MANE Select NP_005262.1:p.His507Tyr
NM_001318904.2:c.1018C>T NP_001305833.1:p.His340Tyr
NM_001318905.2:c.1018C>T NP_001305834.1:p.His340Tyr
NM_001318906.2:c.1018C>T NP_001305835.1:p.His340Tyr
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