Canonical Allele Identifier: CA2610017577

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87051591-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87051591C>A , CM000672.2:g.87051591C>A	GRCh38
NC_000010.10:g.88811348C>A , CM000672.1:g.88811348C>A	GRCh37
NC_000010.9:g.88801328C>A	NCBI36
NG_013010.1:g.48429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3412G>T
ENST00000487058.2:n.1584G>T
ENST00000681987.1:n.1675G>T
ENST00000681988.1:c.*160G>T	ENSP00000507316.1:n.*160G>T
ENST00000682396.1:c.1828G>T	ENSP00000506764.1:n.1828G>T
ENST00000682507.1:c.*160G>T	ENSP00000508098.1:n.*160G>T
ENST00000682622.1:c.2117G>T	ENSP00000506732.1:n.2117G>T
ENST00000682833.1:c.1672G>T
ENST00000683022.1:c.1858G>T
ENST00000683256.1:c.*160G>T	ENSP00000507901.1:n.*160G>T
ENST00000683269.1:c.*160G>T	ENSP00000508107.1:n.*160G>T
ENST00000683647.1:n.5171G>T
ENST00000683649.1:n.687G>T
ENST00000683783.1:c.*160G>T	ENSP00000507881.1:n.*160G>T
ENST00000683813.1:n.1565G>T
ENST00000684032.1:c.1692G>T	ENSP00000506969.1:n.1692G>T
ENST00000684201.1:c.*160G>T	ENSP00000507887.1:n.*160G>T
ENST00000684338.1:c.1915G>T	ENSP00000507457.1:n.1915G>T
ENST00000684372.1:c.*160G>T	ENSP00000508244.1:n.*160G>T
ENST00000684434.1:c.1308G>T
ENST00000684546.1:c.*160G>T	ENSP00000507729.1:n.*160G>T
ENST00000684665.1:n.801G>T
ENST00000684690.1:n.2064G>T
ENST00000684699.1:n.4416G>T
ENST00000277865.5:c.*160G>T MANE Select	ENSP00000277865.4:n.*160G>T
ENST00000277865.4:c.*160G>T	ENSP00000277865.4:n.*160G>T
NM_005271.3:c.*160G>T	NP_005262.1:n.*160G>T
XM_011539668.1:c.*160G>T	XP_011537970.1:n.*160G>T
XM_011539669.1:c.*160G>T	XP_011537971.1:n.*160G>T
NM_001318900.1:c.*160G>T	NP_001305829.1:n.*160G>T
NM_001318901.1:c.*160G>T	NP_001305830.1:n.*160G>T
NM_001318902.1:c.*160G>T	NP_001305831.1:n.*160G>T
NM_001318904.1:c.*160G>T	NP_001305833.1:n.*160G>T
NM_001318905.1:c.*160G>T	NP_001305834.1:n.*160G>T
NM_001318906.1:c.*160G>T	NP_001305835.1:n.*160G>T
NM_005271.4:c.*160G>T	NP_005262.1:n.*160G>T
NM_005271.5:c.*160G>T MANE Select	NP_005262.1:n.*160G>T
NM_001318904.2:c.*160G>T	NP_001305833.1:n.*160G>T
NM_001318905.2:c.*160G>T	NP_001305834.1:n.*160G>T
NM_001318906.2:c.*160G>T	NP_001305835.1:n.*160G>T