Canonical Allele Identifier: CA594907262

Gene: GLUD1

Linked Data

• dbSNP Id: rs1378158665
• gnomAD v2: 10-88811355-C-T
• gnomAD v3: 10-87051598-C-T
• gnomAD v4: 10-87051598-C-T
• MyVariant Identifiers: chr10:g.88811355C>T (hg19) ; chr10:g.87051598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87051598C>T , CM000672.2:g.87051598C>T	GRCh38
NC_000010.10:g.88811355C>T , CM000672.1:g.88811355C>T	GRCh37
NC_000010.9:g.88801335C>T	NCBI36
NG_013010.1:g.48422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3405G>A
ENST00000487058.2:n.1577G>A
ENST00000681987.1:n.1668G>A
ENST00000681988.1:c.*153G>A	ENSP00000507316.1:n.*153G>A
ENST00000682396.1:c.1821G>A	ENSP00000506764.1:n.1821G>A
ENST00000682507.1:c.*153G>A	ENSP00000508098.1:n.*153G>A
ENST00000682622.1:c.2110G>A	ENSP00000506732.1:n.2110G>A
ENST00000682833.1:c.1665G>A
ENST00000683022.1:c.1851G>A
ENST00000683256.1:c.*153G>A	ENSP00000507901.1:n.*153G>A
ENST00000683269.1:c.*153G>A	ENSP00000508107.1:n.*153G>A
ENST00000683647.1:n.5164G>A
ENST00000683649.1:n.680G>A
ENST00000683783.1:c.*153G>A	ENSP00000507881.1:n.*153G>A
ENST00000683813.1:n.1558G>A
ENST00000684032.1:c.1685G>A	ENSP00000506969.1:n.1685G>A
ENST00000684201.1:c.*153G>A	ENSP00000507887.1:n.*153G>A
ENST00000684338.1:c.1908G>A	ENSP00000507457.1:n.1908G>A
ENST00000684372.1:c.*153G>A	ENSP00000508244.1:n.*153G>A
ENST00000684434.1:c.1301G>A
ENST00000684546.1:c.*153G>A	ENSP00000507729.1:n.*153G>A
ENST00000684665.1:n.794G>A
ENST00000684690.1:n.2057G>A
ENST00000684699.1:n.4409G>A
ENST00000277865.5:c.*153G>A MANE Select	ENSP00000277865.4:n.*153G>A
ENST00000277865.4:c.*153G>A	ENSP00000277865.4:n.*153G>A
NM_005271.3:c.*153G>A	NP_005262.1:n.*153G>A
XM_011539668.1:c.*153G>A	XP_011537970.1:n.*153G>A
XM_011539669.1:c.*153G>A	XP_011537971.1:n.*153G>A
NM_001318900.1:c.*153G>A	NP_001305829.1:n.*153G>A
NM_001318901.1:c.*153G>A	NP_001305830.1:n.*153G>A
NM_001318902.1:c.*153G>A	NP_001305831.1:n.*153G>A
NM_001318904.1:c.*153G>A	NP_001305833.1:n.*153G>A
NM_001318905.1:c.*153G>A	NP_001305834.1:n.*153G>A
NM_001318906.1:c.*153G>A	NP_001305835.1:n.*153G>A
NM_005271.4:c.*153G>A	NP_005262.1:n.*153G>A
NM_005271.5:c.*153G>A MANE Select	NP_005262.1:n.*153G>A
NM_001318904.2:c.*153G>A	NP_001305833.1:n.*153G>A
NM_001318905.2:c.*153G>A	NP_001305834.1:n.*153G>A
NM_001318906.2:c.*153G>A	NP_001305835.1:n.*153G>A