Canonical Allele Identifier: CA2580082090

Gene: GLUD1

Linked Data

• ClinVar Variation Id: 1937004
• ClinVar RCV Id: RCV002653054

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060683G>T , CM000672.2:g.87060683G>T	GRCh38
NC_000010.10:g.88820440G>T , CM000672.1:g.88820440G>T	GRCh37
NC_000010.9:g.88810420G>T	NCBI36
NG_013010.1:g.39337C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2772+5C>A
ENST00000487058.2:n.503C>A
ENST00000681987.1:n.1035+5C>A
ENST00000681988.1:c.696+5C>A	ENSP00000507316.1:n.696+5C>A
ENST00000682396.1:c.1188+5C>A	ENSP00000506764.1:n.1188+5C>A
ENST00000682507.1:c.696+5C>A	ENSP00000508098.1:n.696+5C>A
ENST00000682622.1:c.1477+5C>A	ENSP00000506732.1:n.1477+5C>A
ENST00000682833.1:c.1032+5C>A
ENST00000683022.1:c.1218+5C>A
ENST00000683256.1:c.696+5C>A	ENSP00000507901.1:n.696+5C>A
ENST00000683269.1:c.696+5C>A	ENSP00000508107.1:n.696+5C>A
ENST00000683647.1:n.4531+5C>A
ENST00000683783.1:c.696+5C>A	ENSP00000507881.1:n.696+5C>A
ENST00000683813.1:n.925+5C>A
ENST00000684032.1:c.1052+5C>A	ENSP00000506969.1:n.1052+5C>A
ENST00000684201.1:c.922-442C>A	ENSP00000507887.1:n.922-442C>A
ENST00000684338.1:c.1197+5C>A	ENSP00000507457.1:n.1197+5C>A
ENST00000684372.1:c.696+5C>A	ENSP00000508244.1:n.696+5C>A
ENST00000684434.1:c.668+5C>A
ENST00000684546.1:c.696+5C>A	ENSP00000507729.1:n.696+5C>A
ENST00000684690.1:n.983C>A
ENST00000684699.1:n.3335C>A
ENST00000277865.5:c.1197+5C>A MANE Select	ENSP00000277865.4:n.1197+5C>A
ENST00000277865.4:c.1197+5C>A	ENSP00000277865.4:n.1197+5C>A
ENST00000465164.1:n.281C>A
NM_005271.3:c.1197+5C>A	NP_005262.1:n.1197+5C>A
XM_011539668.1:c.696+5C>A	XP_011537970.1:n.696+5C>A
XM_011539669.1:c.696+5C>A	XP_011537971.1:n.696+5C>A
NM_001318900.1:c.798+5C>A	NP_001305829.1:n.798+5C>A
NM_001318901.1:c.696+5C>A	NP_001305830.1:n.696+5C>A
NM_001318902.1:c.696+5C>A	NP_001305831.1:n.696+5C>A
NM_001318904.1:c.696+5C>A	NP_001305833.1:n.696+5C>A
NM_001318905.1:c.696+5C>A	NP_001305834.1:n.696+5C>A
NM_001318906.1:c.696+5C>A	NP_001305835.1:n.696+5C>A
NM_005271.4:c.1197+5C>A	NP_005262.1:n.1197+5C>A
NM_005271.5:c.1197+5C>A MANE Select	NP_005262.1:n.1197+5C>A
NM_001318904.2:c.696+5C>A	NP_001305833.1:n.696+5C>A
NM_001318905.2:c.696+5C>A	NP_001305834.1:n.696+5C>A
NM_001318906.2:c.696+5C>A	NP_001305835.1:n.696+5C>A