Canonical Allele Identifier: CA2610017607

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87051644-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87051644T>G , CM000672.2:g.87051644T>G	GRCh38
NC_000010.10:g.88811401T>G , CM000672.1:g.88811401T>G	GRCh37
NC_000010.9:g.88801381T>G	NCBI36
NG_013010.1:g.48376A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3359A>C
ENST00000487058.2:n.1531A>C
ENST00000681987.1:n.1622A>C
ENST00000681988.1:c.*107A>C	ENSP00000507316.1:n.*107A>C
ENST00000682396.1:c.1775A>C	ENSP00000506764.1:n.1775A>C
ENST00000682507.1:c.*107A>C	ENSP00000508098.1:n.*107A>C
ENST00000682622.1:c.2064A>C	ENSP00000506732.1:n.2064A>C
ENST00000682833.1:c.1619A>C
ENST00000683022.1:c.1805A>C
ENST00000683256.1:c.*107A>C	ENSP00000507901.1:n.*107A>C
ENST00000683269.1:c.*107A>C	ENSP00000508107.1:n.*107A>C
ENST00000683647.1:n.5118A>C
ENST00000683649.1:n.634A>C
ENST00000683783.1:c.*107A>C	ENSP00000507881.1:n.*107A>C
ENST00000683813.1:n.1512A>C
ENST00000684032.1:c.1639A>C	ENSP00000506969.1:n.1639A>C
ENST00000684201.1:c.*107A>C	ENSP00000507887.1:n.*107A>C
ENST00000684338.1:c.1862A>C	ENSP00000507457.1:n.1862A>C
ENST00000684372.1:c.*107A>C	ENSP00000508244.1:n.*107A>C
ENST00000684434.1:c.1255A>C
ENST00000684546.1:c.*107A>C	ENSP00000507729.1:n.*107A>C
ENST00000684665.1:n.748A>C
ENST00000684690.1:n.2011A>C
ENST00000684699.1:n.4363A>C
ENST00000277865.5:c.*107A>C MANE Select	ENSP00000277865.4:n.*107A>C
ENST00000277865.4:c.*107A>C	ENSP00000277865.4:n.*107A>C
NM_005271.3:c.*107A>C	NP_005262.1:n.*107A>C
XM_011539668.1:c.*107A>C	XP_011537970.1:n.*107A>C
XM_011539669.1:c.*107A>C	XP_011537971.1:n.*107A>C
NM_001318900.1:c.*107A>C	NP_001305829.1:n.*107A>C
NM_001318901.1:c.*107A>C	NP_001305830.1:n.*107A>C
NM_001318902.1:c.*107A>C	NP_001305831.1:n.*107A>C
NM_001318904.1:c.*107A>C	NP_001305833.1:n.*107A>C
NM_001318905.1:c.*107A>C	NP_001305834.1:n.*107A>C
NM_001318906.1:c.*107A>C	NP_001305835.1:n.*107A>C
NM_005271.4:c.*107A>C	NP_005262.1:n.*107A>C
NM_005271.5:c.*107A>C MANE Select	NP_005262.1:n.*107A>C
NM_001318904.2:c.*107A>C	NP_001305833.1:n.*107A>C
NM_001318905.2:c.*107A>C	NP_001305834.1:n.*107A>C
NM_001318906.2:c.*107A>C	NP_001305835.1:n.*107A>C