Canonical Allele Identifier: CA669509204

Gene: GLUD1

Linked Data

• dbSNP Id: rs1364263561
• gnomAD v3: 10-87050224-A-C
• gnomAD v4: 10-87050224-A-C
• MyVariant Identifiers: chr10:g.88809981A>C (hg19) ; chr10:g.87050224A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050224A>C , CM000672.2:g.87050224A>C	GRCh38
NC_000010.10:g.88809981A>C , CM000672.1:g.88809981A>C	GRCh37
NC_000010.9:g.88799961A>C	NCBI36
NG_013010.1:g.49796T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1527T>G MANE Select	ENSP00000277865.4:n.*1527T>G
NM_005271.3:c.*1527T>G	NP_005262.1:n.*1527T>G
NM_001318900.1:c.*1527T>G	NP_001305829.1:n.*1527T>G
NM_001318901.1:c.*1527T>G	NP_001305830.1:n.*1527T>G
NM_001318902.1:c.*1527T>G	NP_001305831.1:n.*1527T>G
NM_001318904.1:c.*1527T>G	NP_001305833.1:n.*1527T>G
NM_001318905.1:c.*1527T>G	NP_001305834.1:n.*1527T>G
NM_001318906.1:c.*1527T>G	NP_001305835.1:n.*1527T>G
NM_005271.4:c.*1527T>G	NP_005262.1:n.*1527T>G
NM_005271.5:c.*1527T>G MANE Select	NP_005262.1:n.*1527T>G
NM_001318904.2:c.*1527T>G	NP_001305833.1:n.*1527T>G
NM_001318905.2:c.*1527T>G	NP_001305834.1:n.*1527T>G
NM_001318906.2:c.*1527T>G	NP_001305835.1:n.*1527T>G