Canonical Allele Identifier: CA5587397

Gene: GLUD1

Linked Data

• ClinVar Variation Id: 880412
• ClinVar RCV Id: RCV001108688 ; RCV003160639
• dbSNP Id: rs756259685
• ExAC: 10:88813156 T / C
• gnomAD v2: 10-88813156-T-C
• gnomAD v3: 10-87053399-T-C
• gnomAD v4: 10-87053399-T-C
• MyVariant Identifiers: chr10:g.88813156T>C (hg19) ; chr10:g.87053399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053399T>C , CM000672.2:g.87053399T>C	GRCh38
NC_000010.10:g.88813156T>C , CM000672.1:g.88813156T>C	GRCh37
NC_000010.9:g.88803136T>C	NCBI36
NG_013010.1:g.46621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3075A>G
ENST00000487058.2:n.1247A>G
ENST00000681987.1:n.1338A>G
ENST00000681988.1:c.999A>G	ENSP00000507316.1:p.Ala333=
ENST00000682396.1:c.1491A>G	ENSP00000506764.1:n.1491A>G
ENST00000682507.1:c.999A>G	ENSP00000508098.1:p.Ala333=
ENST00000682622.1:c.1780A>G	ENSP00000506732.1:n.1780A>G
ENST00000682833.1:c.1335A>G
ENST00000683022.1:c.1521A>G
ENST00000683256.1:c.999A>G	ENSP00000507901.1:p.Ala333=
ENST00000683269.1:c.999A>G	ENSP00000508107.1:p.Ala333=
ENST00000683647.1:n.4834A>G
ENST00000683649.1:n.350A>G
ENST00000683783.1:c.999A>G	ENSP00000507881.1:p.Ala333=
ENST00000683813.1:n.1228A>G
ENST00000684032.1:c.1355A>G	ENSP00000506969.1:n.1355A>G
ENST00000684201.1:c.1224A>G	ENSP00000507887.1:p.Ala408=
ENST00000684338.1:c.1500A>G	ENSP00000507457.1:p.Ala500=
ENST00000684372.1:c.999A>G	ENSP00000508244.1:p.Ala333=
ENST00000684434.1:c.971A>G
ENST00000684546.1:c.999A>G	ENSP00000507729.1:p.Ala333=
ENST00000684665.1:n.464A>G
ENST00000684690.1:n.1727A>G
ENST00000684699.1:n.4079A>G
ENST00000277865.5:c.1500A>G MANE Select	ENSP00000277865.4:p.Ala500=
ENST00000277865.4:c.1500A>G	ENSP00000277865.4:p.Ala500=
NM_005271.3:c.1500A>G	NP_005262.1:p.Ala500=
XM_011539668.1:c.999A>G	XP_011537970.1:p.Ala333=
XM_011539669.1:c.999A>G	XP_011537971.1:p.Ala333=
NM_001318900.1:c.1101A>G	NP_001305829.1:p.Ala367=
NM_001318901.1:c.999A>G	NP_001305830.1:p.Ala333=
NM_001318902.1:c.999A>G	NP_001305831.1:p.Ala333=
NM_001318904.1:c.999A>G	NP_001305833.1:p.Ala333=
NM_001318905.1:c.999A>G	NP_001305834.1:p.Ala333=
NM_001318906.1:c.999A>G	NP_001305835.1:p.Ala333=
NM_005271.4:c.1500A>G	NP_005262.1:p.Ala500=
NM_005271.5:c.1500A>G MANE Select	NP_005262.1:p.Ala500=
NM_001318904.2:c.999A>G	NP_001305833.1:p.Ala333=
NM_001318905.2:c.999A>G	NP_001305834.1:p.Ala333=
NM_001318906.2:c.999A>G	NP_001305835.1:p.Ala333=