Canonical Allele Identifier: CA5587504

Gene: GLUD1

Linked Data

• dbSNP Id: rs369580556
• ExAC: 10:88820441 T / C
• gnomAD v2: 10-88820441-T-C
• MyVariant Identifiers: chr10:g.88820441T>C (hg19) ; chr10:g.87060684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060684T>C , CM000672.2:g.87060684T>C	GRCh38
NC_000010.10:g.88820441T>C , CM000672.1:g.88820441T>C	GRCh37
NC_000010.9:g.88810421T>C	NCBI36
NG_013010.1:g.39336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2772+4A>G
ENST00000487058.2:n.502A>G
ENST00000681987.1:n.1035+4A>G
ENST00000681988.1:c.696+4A>G	ENSP00000507316.1:n.696+4A>G
ENST00000682396.1:c.1188+4A>G	ENSP00000506764.1:n.1188+4A>G
ENST00000682507.1:c.696+4A>G	ENSP00000508098.1:n.696+4A>G
ENST00000682622.1:c.1477+4A>G	ENSP00000506732.1:n.1477+4A>G
ENST00000682833.1:c.1032+4A>G
ENST00000683022.1:c.1218+4A>G
ENST00000683256.1:c.696+4A>G	ENSP00000507901.1:n.696+4A>G
ENST00000683269.1:c.696+4A>G	ENSP00000508107.1:n.696+4A>G
ENST00000683647.1:n.4531+4A>G
ENST00000683783.1:c.696+4A>G	ENSP00000507881.1:n.696+4A>G
ENST00000683813.1:n.925+4A>G
ENST00000684032.1:c.1052+4A>G	ENSP00000506969.1:n.1052+4A>G
ENST00000684201.1:c.922-443A>G	ENSP00000507887.1:n.922-443A>G
ENST00000684338.1:c.1197+4A>G	ENSP00000507457.1:n.1197+4A>G
ENST00000684372.1:c.696+4A>G	ENSP00000508244.1:n.696+4A>G
ENST00000684434.1:c.668+4A>G
ENST00000684546.1:c.696+4A>G	ENSP00000507729.1:n.696+4A>G
ENST00000684690.1:n.982A>G
ENST00000684699.1:n.3334A>G
ENST00000277865.5:c.1197+4A>G MANE Select	ENSP00000277865.4:n.1197+4A>G
ENST00000277865.4:c.1197+4A>G	ENSP00000277865.4:n.1197+4A>G
ENST00000465164.1:n.280A>G
NM_005271.3:c.1197+4A>G	NP_005262.1:n.1197+4A>G
XM_011539668.1:c.696+4A>G	XP_011537970.1:n.696+4A>G
XM_011539669.1:c.696+4A>G	XP_011537971.1:n.696+4A>G
NM_001318900.1:c.798+4A>G	NP_001305829.1:n.798+4A>G
NM_001318901.1:c.696+4A>G	NP_001305830.1:n.696+4A>G
NM_001318902.1:c.696+4A>G	NP_001305831.1:n.696+4A>G
NM_001318904.1:c.696+4A>G	NP_001305833.1:n.696+4A>G
NM_001318905.1:c.696+4A>G	NP_001305834.1:n.696+4A>G
NM_001318906.1:c.696+4A>G	NP_001305835.1:n.696+4A>G
NM_005271.4:c.1197+4A>G	NP_005262.1:n.1197+4A>G
NM_005271.5:c.1197+4A>G MANE Select	NP_005262.1:n.1197+4A>G
NM_001318904.2:c.696+4A>G	NP_001305833.1:n.696+4A>G
NM_001318905.2:c.696+4A>G	NP_001305834.1:n.696+4A>G
NM_001318906.2:c.696+4A>G	NP_001305835.1:n.696+4A>G