Canonical Allele Identifier: CA257428
Gene: GLUD1 HGNC NCBI

Identifiers and link-outs to other resources

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

User contributed link-outs

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
NM_005271.3:c.1046A>C VV 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 VV NP_001305829.1:p.Glu216Ala
NM_001318901.1:c.545A>C VV NP_001305830.1:p.Glu182Ala
NM_001318902.1:c.545A>C VV NP_001305831.1:p.Glu182Ala
NM_001318904.1:c.545A>C VV NP_001305833.1:p.Glu182Ala
NM_001318905.1:c.545A>C VV NP_001305834.1:p.Glu182Ala
NM_001318906.1:c.545A>C VV NP_001305835.1:p.Glu182Ala
NM_005271.4:c.1046A>C VV NP_005262.1:p.Glu349Ala
NM_005271.5:c.1046A>C VV MANE Preferred NP_005262.1:p.Glu349Ala
ENST00000277865.4:c.1046A>C ENSP00000277865.4:p.Glu349Ala
ENST00000465164.1:n.125A>C