Canonical Allele Identifier: CA930867802

Gene: GLUD1

Linked Data

• gnomAD v3: 10-87050316-G-GAA
• gnomAD v4: 10-87050316-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050317_87050318dup , CM000672.2:g.87050317_87050318dup	GRCh38
NC_000010.10:g.88810074_88810075dup , CM000672.1:g.88810074_88810075dup	GRCh37
NC_000010.9:g.88800054_88800055dup	NCBI36
NG_013010.1:g.49702_49703dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1433_*1434dup MANE Select	ENSP00000277865.4:n.*1433_*1434dup
NM_005271.3:c.*1433_*1434dup	NP_005262.1:n.*1433_*1434dup
NM_001318900.1:c.*1433_*1434dup	NP_001305829.1:n.*1433_*1434dup
NM_001318901.1:c.*1433_*1434dup	NP_001305830.1:n.*1433_*1434dup
NM_001318902.1:c.*1433_*1434dup	NP_001305831.1:n.*1433_*1434dup
NM_001318904.1:c.*1433_*1434dup	NP_001305833.1:n.*1433_*1434dup
NM_001318905.1:c.*1433_*1434dup	NP_001305834.1:n.*1433_*1434dup
NM_001318906.1:c.*1433_*1434dup	NP_001305835.1:n.*1433_*1434dup
NM_005271.4:c.*1433_*1434dup	NP_005262.1:n.*1433_*1434dup
NM_005271.5:c.*1433_*1434dup MANE Select	NP_005262.1:n.*1433_*1434dup
NM_001318904.2:c.*1433_*1434dup	NP_001305833.1:n.*1433_*1434dup
NM_001318905.2:c.*1433_*1434dup	NP_001305834.1:n.*1433_*1434dup
NM_001318906.2:c.*1433_*1434dup	NP_001305835.1:n.*1433_*1434dup