Canonical Allele Identifier: CA10636345

Gene: GLUD1

Linked Data

• ClinVar Variation Id: 301376
• ClinVar RCV Id: RCV000355266
• dbSNP Id: rs181931207
• gnomAD v2: 10-88810226-C-G
• gnomAD v3: 10-87050469-C-G
• gnomAD v4: 10-87050469-C-G
• MyVariant Identifiers: chr10:g.88810226C>G (hg19) ; chr10:g.87050469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050469C>G , CM000672.2:g.87050469C>G	GRCh38
NC_000010.10:g.88810226C>G , CM000672.1:g.88810226C>G	GRCh37
NC_000010.9:g.88800206C>G	NCBI36
NG_013010.1:g.49551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1282G>C MANE Select	ENSP00000277865.4:n.*1282G>C
NM_005271.3:c.*1282G>C	NP_005262.1:n.*1282G>C
NM_001318900.1:c.*1282G>C	NP_001305829.1:n.*1282G>C
NM_001318901.1:c.*1282G>C	NP_001305830.1:n.*1282G>C
NM_001318902.1:c.*1282G>C	NP_001305831.1:n.*1282G>C
NM_001318904.1:c.*1282G>C	NP_001305833.1:n.*1282G>C
NM_001318905.1:c.*1282G>C	NP_001305834.1:n.*1282G>C
NM_001318906.1:c.*1282G>C	NP_001305835.1:n.*1282G>C
NM_005271.4:c.*1282G>C	NP_005262.1:n.*1282G>C
NM_005271.5:c.*1282G>C MANE Select	NP_005262.1:n.*1282G>C
NM_001318904.2:c.*1282G>C	NP_001305833.1:n.*1282G>C
NM_001318905.2:c.*1282G>C	NP_001305834.1:n.*1282G>C
NM_001318906.2:c.*1282G>C	NP_001305835.1:n.*1282G>C