Canonical Allele Identifier: CA930867772

Gene: GLUD1

Linked Data

• dbSNP Id: rs1845596962
• gnomAD v3: 10-87050314-C-T
• gnomAD v4: 10-87050314-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050314C>T , CM000672.2:g.87050314C>T	GRCh38
NC_000010.10:g.88810071C>T , CM000672.1:g.88810071C>T	GRCh37
NC_000010.9:g.88800051C>T	NCBI36
NG_013010.1:g.49706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1437G>A MANE Select	ENSP00000277865.4:n.*1437G>A
NM_005271.3:c.*1437G>A	NP_005262.1:n.*1437G>A
NM_001318900.1:c.*1437G>A	NP_001305829.1:n.*1437G>A
NM_001318901.1:c.*1437G>A	NP_001305830.1:n.*1437G>A
NM_001318902.1:c.*1437G>A	NP_001305831.1:n.*1437G>A
NM_001318904.1:c.*1437G>A	NP_001305833.1:n.*1437G>A
NM_001318905.1:c.*1437G>A	NP_001305834.1:n.*1437G>A
NM_001318906.1:c.*1437G>A	NP_001305835.1:n.*1437G>A
NM_005271.4:c.*1437G>A	NP_005262.1:n.*1437G>A
NM_005271.5:c.*1437G>A MANE Select	NP_005262.1:n.*1437G>A
NM_001318904.2:c.*1437G>A	NP_001305833.1:n.*1437G>A
NM_001318905.2:c.*1437G>A	NP_001305834.1:n.*1437G>A
NM_001318906.2:c.*1437G>A	NP_001305835.1:n.*1437G>A