Canonical Allele Identifier: CA669509478

Gene: GLUD1

Linked Data

• dbSNP Id: rs1385888430
• gnomAD v3: 10-87050490-G-A
• gnomAD v4: 10-87050490-G-A
• MyVariant Identifiers: chr10:g.88810247G>A (hg19) ; chr10:g.87050490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050490G>A , CM000672.2:g.87050490G>A	GRCh38
NC_000010.10:g.88810247G>A , CM000672.1:g.88810247G>A	GRCh37
NC_000010.9:g.88800227G>A	NCBI36
NG_013010.1:g.49530C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684699.1:n.5517C>T
ENST00000277865.5:c.*1261C>T MANE Select	ENSP00000277865.4:n.*1261C>T
ENST00000277865.4:c.*1261C>T	ENSP00000277865.4:n.*1261C>T
NM_005271.3:c.*1261C>T	NP_005262.1:n.*1261C>T
XM_011539668.1:c.*1261C>T	XP_011537970.1:n.*1261C>T
XM_011539669.1:c.*1261C>T	XP_011537971.1:n.*1261C>T
NM_001318900.1:c.*1261C>T	NP_001305829.1:n.*1261C>T
NM_001318901.1:c.*1261C>T	NP_001305830.1:n.*1261C>T
NM_001318902.1:c.*1261C>T	NP_001305831.1:n.*1261C>T
NM_001318904.1:c.*1261C>T	NP_001305833.1:n.*1261C>T
NM_001318905.1:c.*1261C>T	NP_001305834.1:n.*1261C>T
NM_001318906.1:c.*1261C>T	NP_001305835.1:n.*1261C>T
NM_005271.4:c.*1261C>T	NP_005262.1:n.*1261C>T
NM_005271.5:c.*1261C>T MANE Select	NP_005262.1:n.*1261C>T
NM_001318904.2:c.*1261C>T	NP_001305833.1:n.*1261C>T
NM_001318905.2:c.*1261C>T	NP_001305834.1:n.*1261C>T
NM_001318906.2:c.*1261C>T	NP_001305835.1:n.*1261C>T