Canonical Allele Identifier: CA2610017232

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87050506-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050506T>C , CM000672.2:g.87050506T>C	GRCh38
NC_000010.10:g.88810263T>C , CM000672.1:g.88810263T>C	GRCh37
NC_000010.9:g.88800243T>C	NCBI36
NG_013010.1:g.49514A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474574.2:n.4497A>G
ENST00000681987.1:n.2760A>G
ENST00000682396.1:c.2913A>G	ENSP00000506764.1:n.2913A>G
ENST00000683022.1:c.2943A>G
ENST00000683256.1:c.*1245A>G	ENSP00000507901.1:n.*1245A>G
ENST00000683269.1:c.*1245A>G	ENSP00000508107.1:n.*1245A>G
ENST00000683647.1:n.6256A>G
ENST00000683813.1:n.2650A>G
ENST00000684699.1:n.5501A>G
ENST00000277865.5:c.*1245A>G MANE Select	ENSP00000277865.4:n.*1245A>G
ENST00000277865.4:c.*1245A>G	ENSP00000277865.4:n.*1245A>G
NM_005271.3:c.*1245A>G	NP_005262.1:n.*1245A>G
XM_011539668.1:c.*1245A>G	XP_011537970.1:n.*1245A>G
XM_011539669.1:c.*1245A>G	XP_011537971.1:n.*1245A>G
NM_001318900.1:c.*1245A>G	NP_001305829.1:n.*1245A>G
NM_001318901.1:c.*1245A>G	NP_001305830.1:n.*1245A>G
NM_001318902.1:c.*1245A>G	NP_001305831.1:n.*1245A>G
NM_001318904.1:c.*1245A>G	NP_001305833.1:n.*1245A>G
NM_001318905.1:c.*1245A>G	NP_001305834.1:n.*1245A>G
NM_001318906.1:c.*1245A>G	NP_001305835.1:n.*1245A>G
NM_005271.4:c.*1245A>G	NP_005262.1:n.*1245A>G
NM_005271.5:c.*1245A>G MANE Select	NP_005262.1:n.*1245A>G
NM_001318904.2:c.*1245A>G	NP_001305833.1:n.*1245A>G
NM_001318905.2:c.*1245A>G	NP_001305834.1:n.*1245A>G
NM_001318906.2:c.*1245A>G	NP_001305835.1:n.*1245A>G