Canonical Allele Identifier: CA257428
Gene: GLUD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16126
ClinVar RCV Id: RCV000017506
dbSNP Id: rs121909735

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87060928T>G , CM000672.2:g.87060928T>G GRCh38
NC_000010.10:g.88820685T>G , CM000672.1:g.88820685T>G GRCh37
NC_000010.9:g.88810665T>G NCBI36
NG_013010.1:g.39092A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000474574.2:n.2621A>C
ENST00000487058.2:n.258A>C
ENST00000681987.1:n.884A>C
ENST00000681988.1:c.545A>C ENSP00000507316.1:p.Glu182Ala
ENST00000682396.1:c.1037A>C ENSP00000506764.1:n.1037A>C
ENST00000682507.1:c.545A>C ENSP00000508098.1:p.Glu182Ala
ENST00000682622.1:c.1326A>C ENSP00000506732.1:n.1326A>C
ENST00000682833.1:c.881A>C
ENST00000683022.1:c.1067A>C
ENST00000683256.1:c.545A>C ENSP00000507901.1:p.Glu182Ala
ENST00000683269.1:c.545A>C ENSP00000508107.1:p.Glu182Ala
ENST00000683647.1:n.4380A>C
ENST00000683783.1:c.545A>C ENSP00000507881.1:p.Glu182Ala
ENST00000683813.1:n.774A>C
ENST00000684032.1:c.901A>C ENSP00000506969.1:n.901A>C
ENST00000684201.1:c.922-687A>C ENSP00000507887.1:n.922-687A>C
ENST00000684338.1:c.1046A>C ENSP00000507457.1:p.Glu349Ala
ENST00000684372.1:c.545A>C ENSP00000508244.1:p.Glu182Ala
ENST00000684392.1:n.1777A>C
ENST00000684434.1:c.517A>C
ENST00000684546.1:c.545A>C ENSP00000507729.1:p.Glu182Ala
ENST00000684690.1:n.827A>C
ENST00000684699.1:n.3179A>C
ENST00000277865.5:c.1046A>C MANE Select ENSP00000277865.4:p.Glu349Ala
ENST00000277865.4:c.1046A>C ENSP00000277865.4:p.Glu349Ala
ENST00000465164.1:n.125A>C
NM_005271.3:c.1046A>C NP_005262.1:p.Glu349Ala
XM_011539668.1:c.545A>C XP_011537970.1:p.Glu182Ala
XM_011539669.1:c.545A>C XP_011537971.1:p.Glu182Ala
NM_001318900.1:c.647A>C NP_001305829.1:p.Glu216Ala
NM_001318901.1:c.545A>C NP_001305830.1:p.Glu182Ala
NM_001318902.1:c.545A>C NP_001305831.1:p.Glu182Ala
NM_001318904.1:c.545A>C NP_001305833.1:p.Glu182Ala
NM_001318905.1:c.545A>C NP_001305834.1:p.Glu182Ala
NM_001318906.1:c.545A>C NP_001305835.1:p.Glu182Ala
NM_005271.4:c.1046A>C NP_005262.1:p.Glu349Ala
NM_005271.5:c.1046A>C MANE Select NP_005262.1:p.Glu349Ala
NM_001318904.2:c.545A>C NP_001305833.1:p.Glu182Ala
NM_001318905.2:c.545A>C NP_001305834.1:p.Glu182Ala
NM_001318906.2:c.545A>C NP_001305835.1:p.Glu182Ala