Canonical Allele Identifier: CA5587366

Gene: GLUD1

Linked Data

• ClinVar Variation Id: 301389
• ClinVar RCV Id: RCV000278798
• dbSNP Id: rs373705613
• ExAC: 10:88811533 T / C
• gnomAD v2: 10-88811533-T-C
• gnomAD v3: 10-87051776-T-C
• gnomAD v4: 10-87051776-T-C
• COSMIC: COSM1321163
• MyVariant Identifiers: chr10:g.88811533T>C (hg19) ; chr10:g.87051776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87051776T>C , CM000672.2:g.87051776T>C	GRCh38
NC_000010.10:g.88811533T>C , CM000672.1:g.88811533T>C	GRCh37
NC_000010.9:g.88801513T>C	NCBI36
NG_013010.1:g.48244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3227A>G
ENST00000487058.2:n.1399A>G
ENST00000681987.1:n.1490A>G
ENST00000681988.1:c.1151A>G	ENSP00000507316.1:p.Asn384Ser
ENST00000682396.1:c.1643A>G	ENSP00000506764.1:n.1643A>G
ENST00000682507.1:c.1151A>G	ENSP00000508098.1:p.Asn384Ser
ENST00000682622.1:c.1932A>G	ENSP00000506732.1:n.1932A>G
ENST00000682833.1:c.1487A>G
ENST00000683022.1:c.1673A>G
ENST00000683256.1:c.1151A>G	ENSP00000507901.1:p.Asn384Ser
ENST00000683269.1:c.1151A>G	ENSP00000508107.1:p.Asn384Ser
ENST00000683647.1:n.4986A>G
ENST00000683649.1:n.502A>G
ENST00000683783.1:c.1151A>G	ENSP00000507881.1:p.Asn384Ser
ENST00000683813.1:n.1380A>G
ENST00000684032.1:c.1507A>G	ENSP00000506969.1:n.1507A>G
ENST00000684201.1:c.1376A>G	ENSP00000507887.1:p.Asn459Ser
ENST00000684338.1:c.1730A>G	ENSP00000507457.1:n.1730A>G
ENST00000684372.1:c.1151A>G	ENSP00000508244.1:p.Asn384Ser
ENST00000684434.1:c.1123A>G
ENST00000684546.1:c.1151A>G	ENSP00000507729.1:p.Asn384Ser
ENST00000684665.1:n.616A>G
ENST00000684690.1:n.1879A>G
ENST00000684699.1:n.4231A>G
ENST00000277865.5:c.1652A>G MANE Select	ENSP00000277865.4:p.Asn551Ser
ENST00000277865.4:c.1652A>G	ENSP00000277865.4:p.Asn551Ser
NM_005271.3:c.1652A>G	NP_005262.1:p.Asn551Ser
XM_011539668.1:c.1151A>G	XP_011537970.1:p.Asn384Ser
XM_011539669.1:c.1151A>G	XP_011537971.1:p.Asn384Ser
NM_001318900.1:c.1253A>G	NP_001305829.1:p.Asn418Ser
NM_001318901.1:c.1151A>G	NP_001305830.1:p.Asn384Ser
NM_001318902.1:c.1151A>G	NP_001305831.1:p.Asn384Ser
NM_001318904.1:c.1151A>G	NP_001305833.1:p.Asn384Ser
NM_001318905.1:c.1151A>G	NP_001305834.1:p.Asn384Ser
NM_001318906.1:c.1151A>G	NP_001305835.1:p.Asn384Ser
NM_005271.4:c.1652A>G	NP_005262.1:p.Asn551Ser
NM_005271.5:c.1652A>G MANE Select	NP_005262.1:p.Asn551Ser
NM_001318904.2:c.1151A>G	NP_001305833.1:p.Asn384Ser
NM_001318905.2:c.1151A>G	NP_001305834.1:p.Asn384Ser
NM_001318906.2:c.1151A>G	NP_001305835.1:p.Asn384Ser