Canonical Allele Identifier: CA594907753

Gene: GLUD1

Linked Data

• dbSNP Id: rs1313401782
• gnomAD v2: 10-88813194-C-T
• gnomAD v4: 10-87053437-C-T
• MyVariant Identifiers: chr10:g.88813194_88813196delinsTCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053437C>T , CM000672.2:g.87053437C>T	GRCh38
NC_000010.10:g.88813194C>T , CM000672.1:g.88813194C>T	GRCh37
NC_000010.9:g.88803174C>T	NCBI36
NG_013010.1:g.46583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3070-33G>A
ENST00000487058.2:n.1242-33G>A
ENST00000681987.1:n.1333-33G>A
ENST00000681988.1:c.994-33G>A	ENSP00000507316.1:n.994-33G>A
ENST00000682396.1:c.1486-33G>A	ENSP00000506764.1:n.1486-33G>A
ENST00000682507.1:c.994-33G>A	ENSP00000508098.1:n.994-33G>A
ENST00000682622.1:c.1775-33G>A	ENSP00000506732.1:n.1775-33G>A
ENST00000682833.1:c.1330-33G>A
ENST00000683022.1:c.1516-33G>A
ENST00000683256.1:c.994-33G>A	ENSP00000507901.1:n.994-33G>A
ENST00000683269.1:c.994-33G>A	ENSP00000508107.1:n.994-33G>A
ENST00000683647.1:n.4829-33G>A
ENST00000683649.1:n.345-33G>A
ENST00000683783.1:c.994-33G>A	ENSP00000507881.1:n.994-33G>A
ENST00000683813.1:n.1223-33G>A
ENST00000684032.1:c.1350-33G>A	ENSP00000506969.1:n.1350-33G>A
ENST00000684201.1:c.1219-33G>A	ENSP00000507887.1:n.1219-33G>A
ENST00000684338.1:c.1495-33G>A	ENSP00000507457.1:n.1495-33G>A
ENST00000684372.1:c.994-33G>A	ENSP00000508244.1:n.994-33G>A
ENST00000684434.1:c.966-33G>A
ENST00000684546.1:c.994-33G>A	ENSP00000507729.1:n.994-33G>A
ENST00000684665.1:n.426G>A
ENST00000684690.1:n.1722-33G>A
ENST00000684699.1:n.4074-33G>A
ENST00000277865.5:c.1495-33G>A MANE Select	ENSP00000277865.4:n.1495-33G>A
ENST00000277865.4:c.1495-33G>A	ENSP00000277865.4:n.1495-33G>A
NM_005271.3:c.1495-33G>A	NP_005262.1:n.1495-33G>A
XM_011539668.1:c.994-33G>A	XP_011537970.1:n.994-33G>A
XM_011539669.1:c.994-33G>A	XP_011537971.1:n.994-33G>A
NM_001318900.1:c.1096-33G>A	NP_001305829.1:n.1096-33G>A
NM_001318901.1:c.994-33G>A	NP_001305830.1:n.994-33G>A
NM_001318902.1:c.994-33G>A	NP_001305831.1:n.994-33G>A
NM_001318904.1:c.994-33G>A	NP_001305833.1:n.994-33G>A
NM_001318905.1:c.994-33G>A	NP_001305834.1:n.994-33G>A
NM_001318906.1:c.994-33G>A	NP_001305835.1:n.994-33G>A
NM_005271.4:c.1495-33G>A	NP_005262.1:n.1495-33G>A
NM_005271.5:c.1495-33G>A MANE Select	NP_005262.1:n.1495-33G>A
NM_001318904.2:c.994-33G>A	NP_001305833.1:n.994-33G>A
NM_001318905.2:c.994-33G>A	NP_001305834.1:n.994-33G>A
NM_001318906.2:c.994-33G>A	NP_001305835.1:n.994-33G>A