Canonical Allele Identifier: CA470669497

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87060697-G-C
• MyVariant Identifiers: chr10:g.88820454G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060697G>C , CM000672.2:g.87060697G>C	GRCh38
NC_000010.10:g.88820454G>C , CM000672.1:g.88820454G>C	GRCh37
NC_000010.9:g.88810434G>C	NCBI36
NG_013010.1:g.39323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2763C>G
ENST00000487058.2:n.489C>G
ENST00000681987.1:n.1026C>G
ENST00000681988.1:c.687C>G	ENSP00000507316.1:p.Val229=
ENST00000682396.1:c.1179C>G	ENSP00000506764.1:n.1179C>G
ENST00000682507.1:c.687C>G	ENSP00000508098.1:p.Val229=
ENST00000682622.1:c.1468C>G	ENSP00000506732.1:n.1468C>G
ENST00000682833.1:c.1023C>G
ENST00000683022.1:c.1209C>G
ENST00000683256.1:c.687C>G	ENSP00000507901.1:p.Val229=
ENST00000683269.1:c.687C>G	ENSP00000508107.1:p.Val229=
ENST00000683647.1:n.4522C>G
ENST00000683783.1:c.687C>G	ENSP00000507881.1:p.Val229=
ENST00000683813.1:n.916C>G
ENST00000684032.1:c.1043C>G	ENSP00000506969.1:n.1043C>G
ENST00000684201.1:c.922-456C>G	ENSP00000507887.1:n.922-456C>G
ENST00000684338.1:c.1188C>G	ENSP00000507457.1:p.Val396=
ENST00000684372.1:c.687C>G	ENSP00000508244.1:p.Val229=
ENST00000684434.1:c.659C>G
ENST00000684546.1:c.687C>G	ENSP00000507729.1:p.Val229=
ENST00000684690.1:n.969C>G
ENST00000684699.1:n.3321C>G
ENST00000277865.5:c.1188C>G MANE Select	ENSP00000277865.4:p.Val396=
ENST00000277865.4:c.1188C>G	ENSP00000277865.4:p.Val396=
ENST00000465164.1:n.267C>G
NM_005271.3:c.1188C>G	NP_005262.1:p.Val396=
XM_011539668.1:c.687C>G	XP_011537970.1:p.Val229=
XM_011539669.1:c.687C>G	XP_011537971.1:p.Val229=
NM_001318900.1:c.789C>G	NP_001305829.1:p.Val263=
NM_001318901.1:c.687C>G	NP_001305830.1:p.Val229=
NM_001318902.1:c.687C>G	NP_001305831.1:p.Val229=
NM_001318904.1:c.687C>G	NP_001305833.1:p.Val229=
NM_001318905.1:c.687C>G	NP_001305834.1:p.Val229=
NM_001318906.1:c.687C>G	NP_001305835.1:p.Val229=
NM_005271.4:c.1188C>G	NP_005262.1:p.Val396=
NM_005271.5:c.1188C>G MANE Select	NP_005262.1:p.Val396=
NM_001318904.2:c.687C>G	NP_001305833.1:p.Val229=
NM_001318905.2:c.687C>G	NP_001305834.1:p.Val229=
NM_001318906.2:c.687C>G	NP_001305835.1:p.Val229=