Canonical Allele Identifier: CA377466847

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87060704-G-T
• MyVariant Identifiers: chr10:g.88820461G>T (hg19) ; chr10:g.87060704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060704G>T , CM000672.2:g.87060704G>T	GRCh38
NC_000010.10:g.88820461G>T , CM000672.1:g.88820461G>T	GRCh37
NC_000010.9:g.88810441G>T	NCBI36
NG_013010.1:g.39316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2756C>A
ENST00000487058.2:n.482C>A
ENST00000681987.1:n.1019C>A
ENST00000681988.1:c.680C>A	ENSP00000507316.1:p.Pro227His
ENST00000682396.1:c.1172C>A	ENSP00000506764.1:n.1172C>A
ENST00000682507.1:c.680C>A	ENSP00000508098.1:p.Pro227His
ENST00000682622.1:c.1461C>A	ENSP00000506732.1:n.1461C>A
ENST00000682833.1:c.1016C>A
ENST00000683022.1:c.1202C>A
ENST00000683256.1:c.680C>A	ENSP00000507901.1:p.Pro227His
ENST00000683269.1:c.680C>A	ENSP00000508107.1:p.Pro227His
ENST00000683647.1:n.4515C>A
ENST00000683783.1:c.680C>A	ENSP00000507881.1:p.Pro227His
ENST00000683813.1:n.909C>A
ENST00000684032.1:c.1036C>A	ENSP00000506969.1:n.1036C>A
ENST00000684201.1:c.922-463C>A	ENSP00000507887.1:n.922-463C>A
ENST00000684338.1:c.1181C>A	ENSP00000507457.1:p.Pro394His
ENST00000684372.1:c.680C>A	ENSP00000508244.1:p.Pro227His
ENST00000684434.1:c.652C>A
ENST00000684546.1:c.680C>A	ENSP00000507729.1:p.Pro227His
ENST00000684690.1:n.962C>A
ENST00000684699.1:n.3314C>A
ENST00000277865.5:c.1181C>A MANE Select	ENSP00000277865.4:p.Pro394His
ENST00000277865.4:c.1181C>A	ENSP00000277865.4:p.Pro394His
ENST00000465164.1:n.260C>A
NM_005271.3:c.1181C>A	NP_005262.1:p.Pro394His
XM_011539668.1:c.680C>A	XP_011537970.1:p.Pro227His
XM_011539669.1:c.680C>A	XP_011537971.1:p.Pro227His
NM_001318900.1:c.782C>A	NP_001305829.1:p.Pro261His
NM_001318901.1:c.680C>A	NP_001305830.1:p.Pro227His
NM_001318902.1:c.680C>A	NP_001305831.1:p.Pro227His
NM_001318904.1:c.680C>A	NP_001305833.1:p.Pro227His
NM_001318905.1:c.680C>A	NP_001305834.1:p.Pro227His
NM_001318906.1:c.680C>A	NP_001305835.1:p.Pro227His
NM_005271.4:c.1181C>A	NP_005262.1:p.Pro394His
NM_005271.5:c.1181C>A MANE Select	NP_005262.1:p.Pro394His
NM_001318904.2:c.680C>A	NP_001305833.1:p.Pro227His
NM_001318905.2:c.680C>A	NP_001305834.1:p.Pro227His
NM_001318906.2:c.680C>A	NP_001305835.1:p.Pro227His