Canonical Allele Identifier: CA930867929

Gene: GLUD1

Linked Data

• dbSNP Id: rs1845603509
• gnomAD v3: 10-87050471-G-T
• gnomAD v4: 10-87050471-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050471G>T , CM000672.2:g.87050471G>T	GRCh38
NC_000010.10:g.88810228G>T , CM000672.1:g.88810228G>T	GRCh37
NC_000010.9:g.88800208G>T	NCBI36
NG_013010.1:g.49549C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1280C>A MANE Select	ENSP00000277865.4:n.*1280C>A
NM_005271.3:c.*1280C>A	NP_005262.1:n.*1280C>A
NM_001318900.1:c.*1280C>A	NP_001305829.1:n.*1280C>A
NM_001318901.1:c.*1280C>A	NP_001305830.1:n.*1280C>A
NM_001318902.1:c.*1280C>A	NP_001305831.1:n.*1280C>A
NM_001318904.1:c.*1280C>A	NP_001305833.1:n.*1280C>A
NM_001318905.1:c.*1280C>A	NP_001305834.1:n.*1280C>A
NM_001318906.1:c.*1280C>A	NP_001305835.1:n.*1280C>A
NM_005271.4:c.*1280C>A	NP_005262.1:n.*1280C>A
NM_005271.5:c.*1280C>A MANE Select	NP_005262.1:n.*1280C>A
NM_001318904.2:c.*1280C>A	NP_001305833.1:n.*1280C>A
NM_001318905.2:c.*1280C>A	NP_001305834.1:n.*1280C>A
NM_001318906.2:c.*1280C>A	NP_001305835.1:n.*1280C>A