Canonical Allele Identifier: CA470666531

Gene: GLUD1

Linked Data

• MyVariant Identifiers: chr10:g.88813138C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053381C>G , CM000672.2:g.87053381C>G	GRCh38
NC_000010.10:g.88813138C>G , CM000672.1:g.88813138C>G	GRCh37
NC_000010.9:g.88803118C>G	NCBI36
NG_013010.1:g.46639G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474574.2:n.3093G>C
ENST00000487058.2:n.1265G>C
ENST00000681987.1:n.1356G>C
ENST00000681988.1:c.1017G>C	ENSP00000507316.1:p.Val339=
ENST00000682396.1:c.1509G>C	ENSP00000506764.1:n.1509G>C
ENST00000682507.1:c.1017G>C	ENSP00000508098.1:p.Val339=
ENST00000682622.1:c.1798G>C	ENSP00000506732.1:n.1798G>C
ENST00000682833.1:c.1353G>C
ENST00000683022.1:c.1539G>C
ENST00000683256.1:c.1017G>C	ENSP00000507901.1:p.Val339=
ENST00000683269.1:c.1017G>C	ENSP00000508107.1:p.Val339=
ENST00000683647.1:n.4852G>C
ENST00000683649.1:n.368G>C
ENST00000683783.1:c.1017G>C	ENSP00000507881.1:p.Val339=
ENST00000683813.1:n.1246G>C
ENST00000684032.1:c.1373G>C	ENSP00000506969.1:n.1373G>C
ENST00000684201.1:c.1242G>C	ENSP00000507887.1:p.Val414=
ENST00000684338.1:c.1518G>C	ENSP00000507457.1:p.Val506=
ENST00000684372.1:c.1017G>C	ENSP00000508244.1:p.Val339=
ENST00000684434.1:c.989G>C
ENST00000684546.1:c.1017G>C	ENSP00000507729.1:p.Val339=
ENST00000684665.1:n.482G>C
ENST00000684690.1:n.1745G>C
ENST00000684699.1:n.4097G>C
ENST00000277865.5:c.1518G>C MANE Select	ENSP00000277865.4:p.Val506=
ENST00000277865.4:c.1518G>C	ENSP00000277865.4:p.Val506=
NM_005271.3:c.1518G>C	NP_005262.1:p.Val506=
XM_011539668.1:c.1017G>C	XP_011537970.1:p.Val339=
XM_011539669.1:c.1017G>C	XP_011537971.1:p.Val339=
NM_001318900.1:c.1119G>C	NP_001305829.1:p.Val373=
NM_001318901.1:c.1017G>C	NP_001305830.1:p.Val339=
NM_001318902.1:c.1017G>C	NP_001305831.1:p.Val339=
NM_001318904.1:c.1017G>C	NP_001305833.1:p.Val339=
NM_001318905.1:c.1017G>C	NP_001305834.1:p.Val339=
NM_001318906.1:c.1017G>C	NP_001305835.1:p.Val339=
NM_005271.4:c.1518G>C	NP_005262.1:p.Val506=
NM_005271.5:c.1518G>C MANE Select	NP_005262.1:p.Val506=
NM_001318904.2:c.1017G>C	NP_001305833.1:p.Val339=
NM_001318905.2:c.1017G>C	NP_001305834.1:p.Val339=
NM_001318906.2:c.1017G>C	NP_001305835.1:p.Val339=