Canonical Allele Identifier: CA377466927

Gene: GLUD1

Linked Data

• dbSNP Id: rs1845908353
• MyVariant Identifiers: chr10:g.88820495C>T (hg19) ; chr10:g.87060738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060738C>T , CM000672.2:g.87060738C>T	GRCh38
NC_000010.10:g.88820495C>T , CM000672.1:g.88820495C>T	GRCh37
NC_000010.9:g.88810475C>T	NCBI36
NG_013010.1:g.39282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2722G>A
ENST00000487058.2:n.448G>A
ENST00000681987.1:n.985G>A
ENST00000681988.1:c.646G>A	ENSP00000507316.1:p.Ala216Thr
ENST00000682396.1:c.1138G>A	ENSP00000506764.1:n.1138G>A
ENST00000682507.1:c.646G>A	ENSP00000508098.1:p.Ala216Thr
ENST00000682622.1:c.1427G>A	ENSP00000506732.1:n.1427G>A
ENST00000682833.1:c.982G>A
ENST00000683022.1:c.1168G>A
ENST00000683256.1:c.646G>A	ENSP00000507901.1:p.Ala216Thr
ENST00000683269.1:c.646G>A	ENSP00000508107.1:p.Ala216Thr
ENST00000683647.1:n.4481G>A
ENST00000683783.1:c.646G>A	ENSP00000507881.1:p.Ala216Thr
ENST00000683813.1:n.875G>A
ENST00000684032.1:c.1002G>A	ENSP00000506969.1:n.1002G>A
ENST00000684201.1:c.922-497G>A	ENSP00000507887.1:n.922-497G>A
ENST00000684338.1:c.1147G>A	ENSP00000507457.1:p.Ala383Thr
ENST00000684372.1:c.646G>A	ENSP00000508244.1:p.Ala216Thr
ENST00000684392.1:n.1878G>A
ENST00000684434.1:c.618G>A
ENST00000684546.1:c.646G>A	ENSP00000507729.1:p.Ala216Thr
ENST00000684690.1:n.928G>A
ENST00000684699.1:n.3280G>A
ENST00000277865.5:c.1147G>A MANE Select	ENSP00000277865.4:p.Ala383Thr
ENST00000277865.4:c.1147G>A	ENSP00000277865.4:p.Ala383Thr
ENST00000465164.1:n.226G>A
NM_005271.3:c.1147G>A	NP_005262.1:p.Ala383Thr
XM_011539668.1:c.646G>A	XP_011537970.1:p.Ala216Thr
XM_011539669.1:c.646G>A	XP_011537971.1:p.Ala216Thr
NM_001318900.1:c.748G>A	NP_001305829.1:p.Ala250Thr
NM_001318901.1:c.646G>A	NP_001305830.1:p.Ala216Thr
NM_001318902.1:c.646G>A	NP_001305831.1:p.Ala216Thr
NM_001318904.1:c.646G>A	NP_001305833.1:p.Ala216Thr
NM_001318905.1:c.646G>A	NP_001305834.1:p.Ala216Thr
NM_001318906.1:c.646G>A	NP_001305835.1:p.Ala216Thr
NM_005271.4:c.1147G>A	NP_005262.1:p.Ala383Thr
NM_005271.5:c.1147G>A MANE Select	NP_005262.1:p.Ala383Thr
NM_001318904.2:c.646G>A	NP_001305833.1:p.Ala216Thr
NM_001318905.2:c.646G>A	NP_001305834.1:p.Ala216Thr
NM_001318906.2:c.646G>A	NP_001305835.1:p.Ala216Thr