Canonical Allele Identifier: CA930867662

Gene: GLUD1

Linked Data

• dbSNP Id: rs1845594162
• gnomAD v3: 10-87050237-T-G
• gnomAD v4: 10-87050237-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050237T>G , CM000672.2:g.87050237T>G	GRCh38
NC_000010.10:g.88809994T>G , CM000672.1:g.88809994T>G	GRCh37
NC_000010.9:g.88799974T>G	NCBI36
NG_013010.1:g.49783A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1514A>C MANE Select	ENSP00000277865.4:n.*1514A>C
NM_005271.3:c.*1514A>C	NP_005262.1:n.*1514A>C
NM_001318900.1:c.*1514A>C	NP_001305829.1:n.*1514A>C
NM_001318901.1:c.*1514A>C	NP_001305830.1:n.*1514A>C
NM_001318902.1:c.*1514A>C	NP_001305831.1:n.*1514A>C
NM_001318904.1:c.*1514A>C	NP_001305833.1:n.*1514A>C
NM_001318905.1:c.*1514A>C	NP_001305834.1:n.*1514A>C
NM_001318906.1:c.*1514A>C	NP_001305835.1:n.*1514A>C
NM_005271.4:c.*1514A>C	NP_005262.1:n.*1514A>C
NM_005271.5:c.*1514A>C MANE Select	NP_005262.1:n.*1514A>C
NM_001318904.2:c.*1514A>C	NP_001305833.1:n.*1514A>C
NM_001318905.2:c.*1514A>C	NP_001305834.1:n.*1514A>C
NM_001318906.2:c.*1514A>C	NP_001305835.1:n.*1514A>C