Canonical Allele Identifier: CA5263799

Gene: GLE1

Linked Data

• ClinVar Variation Id: 256856
• ClinVar RCV Id: RCV000249644 ; RCV001544000 ; RCV001544001 ; RCV001711798
• dbSNP Id: rs869455
• ExAC: 9:131289600 G / T
• gnomAD v2: 9-131289600-G-T
• gnomAD v3: 9-128527321-G-T
• gnomAD v4: 9-128527321-G-T
• MyVariant Identifiers: chr9:g.131289600G>T (hg19) ; chr9:g.128527321G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128527321G>T , CM000671.2:g.128527321G>T	GRCh38
NC_000009.11:g.131289600G>T , CM000671.1:g.131289600G>T	GRCh37
NC_000009.10:g.130329421G>T	NCBI36
NG_012073.1:g.27630G>T , LRG_484:g.27630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494417.2:n.1346+30G>T
ENST00000683044.1:c.*313+30G>T	ENSP00000507095.1:n.*313+30G>T
ENST00000683288.1:c.*1241+30G>T	ENSP00000507477.1:n.*1241+30G>T
ENST00000683748.1:c.1242+30G>T	ENSP00000507377.1:n.1242+30G>T
ENST00000683905.1:c.1242+30G>T	ENSP00000506960.1:n.1242+30G>T
ENST00000684139.1:c.777+30G>T	ENSP00000507295.1:n.777+30G>T
ENST00000684210.1:n.955+30G>T
ENST00000684314.1:c.1242+30G>T	ENSP00000507700.1:n.1242+30G>T
ENST00000684331.1:c.1242+30G>T	ENSP00000507431.1:n.1242+30G>T
ENST00000684646.1:c.1242+30G>T	ENSP00000507723.1:n.1242+30G>T
ENST00000309971.9:c.1242+30G>T MANE Select	ENSP00000308622.5:n.1242+30G>T
ENST00000309971.8:c.1242+30G>T	ENSP00000308622.4:n.1242+30G>T
ENST00000372770.4:c.1242+30G>T	ENSP00000361856.4:n.1242+30G>T
ENST00000494417.1:n.544+30G>T
NM_001003722.1:c.1242+30G>T , LRG_484t1:c.1242+30G>T	NP_001003722.1:n.1242+30G>T
NM_001499.2:c.1242+30G>T , LRG_484t2:c.1242+30G>T	NP_001490.1:n.1242+30G>T
XM_006717059.2:c.1251+30G>T	XP_006717122.1:n.1251+30G>T
XM_006717060.2:c.1251+30G>T	XP_006717123.1:n.1251+30G>T
XM_011518549.1:c.1251+30G>T	XP_011516851.1:n.1251+30G>T
XM_011518550.1:c.1251+30G>T	XP_011516852.1:n.1251+30G>T
XM_011518551.1:c.1242+30G>T	XP_011516853.1:n.1242+30G>T
XM_011518552.1:c.492+30G>T	XP_011516854.1:n.492+30G>T
XM_006717059.3:c.1251+30G>T	XP_006717122.1:n.1251+30G>T
XM_006717060.3:c.1251+30G>T	XP_006717123.1:n.1251+30G>T
XM_011518551.2:c.1242+30G>T	XP_011516853.1:n.1242+30G>T
XM_024447519.1:c.1251+30G>T	XP_024303287.1:n.1251+30G>T
NM_001003722.2:c.1242+30G>T MANE Select	NP_001003722.1:n.1242+30G>T