Canonical Allele Identifier: CA5263754

Gene: GLE1

Linked Data

• ClinVar Variation Id: 256855
• ClinVar RCV Id: RCV000244686 ; RCV000269348 ; RCV000370927 ; RCV001512266 ; RCV001833271
• dbSNP Id: rs138310419
• ExAC: 9:131287573 G / A
• gnomAD v2: 9-131287573-G-A
• gnomAD v3: 9-128525294-G-A
• gnomAD v4: 9-128525294-G-A
• MyVariant Identifiers: chr9:g.131287573G>A (hg19) ; chr9:g.128525294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128525294G>A , CM000671.2:g.128525294G>A	GRCh38
NC_000009.11:g.131287573G>A , CM000671.1:g.131287573G>A	GRCh37
NC_000009.10:g.130327394G>A	NCBI36
NG_012073.1:g.25603G>A , LRG_484:g.25603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494417.2:n.1104G>A
ENST00000683044.1:c.*71G>A	ENSP00000507095.1:n.*71G>A
ENST00000683288.1:c.*999G>A	ENSP00000507477.1:n.*999G>A
ENST00000683331.1:n.947G>A
ENST00000683748.1:c.1000G>A	ENSP00000507377.1:p.Glu334Lys
ENST00000683905.1:c.1000G>A	ENSP00000506960.1:p.Glu334Lys
ENST00000684139.1:c.535G>A	ENSP00000507295.1:p.Glu179Lys
ENST00000684210.1:n.713G>A
ENST00000684314.1:c.1000G>A	ENSP00000507700.1:p.Glu334Lys
ENST00000684331.1:c.1000G>A	ENSP00000507431.1:p.Glu334Lys
ENST00000684646.1:c.1000G>A	ENSP00000507723.1:p.Glu334Lys
ENST00000309971.9:c.1000G>A MANE Select	ENSP00000308622.5:p.Glu334Lys
ENST00000309971.8:c.1000G>A	ENSP00000308622.4:p.Glu334Lys
ENST00000372770.4:c.1000G>A	ENSP00000361856.4:p.Glu334Lys
ENST00000494417.1:n.302G>A
NM_001003722.1:c.1000G>A , LRG_484t1:c.1000G>A	NP_001003722.1:p.Glu334Lys
NM_001499.2:c.1000G>A , LRG_484t2:c.1000G>A	NP_001490.1:p.Glu334Lys
XM_006717059.2:c.1009G>A	XP_006717122.1:p.Glu337Lys
XM_006717060.2:c.1009G>A	XP_006717123.1:p.Glu337Lys
XM_011518549.1:c.1009G>A	XP_011516851.1:p.Glu337Lys
XM_011518550.1:c.1009G>A	XP_011516852.1:p.Glu337Lys
XM_011518551.1:c.1000G>A	XP_011516853.1:p.Glu334Lys
XM_011518552.1:c.250G>A	XP_011516854.1:p.Glu84Lys
XM_006717059.3:c.1009G>A	XP_006717122.1:p.Glu337Lys
XM_006717060.3:c.1009G>A	XP_006717123.1:p.Glu337Lys
XM_011518551.2:c.1000G>A	XP_011516853.1:p.Glu334Lys
XM_024447519.1:c.1009G>A	XP_024303287.1:p.Glu337Lys
NM_001003722.2:c.1000G>A MANE Select	NP_001003722.1:p.Glu334Lys