Canonical Allele Identifier: CA5263676

Gene: GLE1

Linked Data

• ClinVar Variation Id: 284416
• ClinVar RCV Id: RCV000378718 ; RCV000405517 ; RCV001828200 ; RCV002518930 ; RCV000279452
• dbSNP Id: rs146025848
• ExAC: 9:131285907 C / T
• gnomAD v2: 9-131285907-C-T
• gnomAD v3: 9-128523628-C-T
• gnomAD v4: 9-128523628-C-T
• MyVariant Identifiers: chr9:g.131285907C>T (hg19) ; chr9:g.128523628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128523628C>T , CM000671.2:g.128523628C>T	GRCh38
NC_000009.11:g.131285907C>T , CM000671.1:g.131285907C>T	GRCh37
NC_000009.10:g.130325728C>T	NCBI36
NG_012073.1:g.23937C>T , LRG_484:g.23937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494417.2:n.783C>T
ENST00000683044.1:c.679C>T	ENSP00000507095.1:p.Arg227Cys
ENST00000683288.1:c.*678C>T	ENSP00000507477.1:n.*678C>T
ENST00000683331.1:n.626C>T
ENST00000683748.1:c.679C>T	ENSP00000507377.1:p.Arg227Cys
ENST00000683905.1:c.679C>T	ENSP00000506960.1:p.Arg227Cys
ENST00000684139.1:c.433-1564C>T	ENSP00000507295.1:n.433-1564C>T
ENST00000684210.1:n.397C>T
ENST00000684314.1:c.679C>T	ENSP00000507700.1:p.Arg227Cys
ENST00000684331.1:c.679C>T	ENSP00000507431.1:p.Arg227Cys
ENST00000684646.1:c.679C>T	ENSP00000507723.1:p.Arg227Cys
ENST00000309971.9:c.679C>T MANE Select	ENSP00000308622.5:p.Arg227Cys
ENST00000309971.8:c.679C>T	ENSP00000308622.4:p.Arg227Cys
ENST00000372770.4:c.679C>T	ENSP00000361856.4:p.Arg227Cys
NM_001003722.1:c.679C>T , LRG_484t1:c.679C>T	NP_001003722.1:p.Arg227Cys
NM_001499.2:c.679C>T , LRG_484t2:c.679C>T	NP_001490.1:p.Arg227Cys
XM_006717059.2:c.688C>T	XP_006717122.1:p.Arg230Cys
XM_006717060.2:c.688C>T	XP_006717123.1:p.Arg230Cys
XM_011518549.1:c.688C>T	XP_011516851.1:p.Arg230Cys
XM_011518550.1:c.688C>T	XP_011516852.1:p.Arg230Cys
XM_011518551.1:c.679C>T	XP_011516853.1:p.Arg227Cys
XM_011518552.1:c.-67C>T	XP_011516854.1:n.-67C>T
XM_006717059.3:c.688C>T	XP_006717122.1:p.Arg230Cys
XM_006717060.3:c.688C>T	XP_006717123.1:p.Arg230Cys
XM_011518551.2:c.679C>T	XP_011516853.1:p.Arg227Cys
XM_024447519.1:c.688C>T	XP_024303287.1:p.Arg230Cys
NM_001003722.2:c.679C>T MANE Select	NP_001003722.1:p.Arg227Cys