Canonical Allele Identifier: CA5264029

Gene: GLE1

Linked Data

• ClinVar Variation Id: 2577332
• ClinVar RCV Id: RCV003324409
• dbSNP Id: rs180872962
• ExAC: 9:131302595 T / A
• gnomAD v2: 9-131302595-T-A
• gnomAD v3: 9-128540316-T-A
• gnomAD v4: 9-128540316-T-A
• MyVariant Identifiers: chr9:g.131302595T>A (hg19) ; chr9:g.128540316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540316T>A , CM000671.2:g.128540316T>A	GRCh38
NC_000009.11:g.131302595T>A , CM000671.1:g.131302595T>A	GRCh37
NC_000009.10:g.130342416T>A	NCBI36
NG_012073.1:g.40625T>A , LRG_484:g.40625T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1077T>A	ENSP00000507095.1:n.*1077T>A
ENST00000683288.1:c.*2005T>A	ENSP00000507477.1:n.*2005T>A
ENST00000683748.1:c.2033T>A	ENSP00000507377.1:p.Ile678Lys
ENST00000683905.1:c.*682T>A	ENSP00000506960.1:n.*682T>A
ENST00000684139.1:c.1541T>A	ENSP00000507295.1:p.Ile514Lys
ENST00000684210.1:n.1719T>A
ENST00000684314.1:c.1901T>A	ENSP00000507700.1:p.Ile634Lys
ENST00000684331.1:c.2006T>A	ENSP00000507431.1:p.Ile669Lys
ENST00000684463.1:n.644T>A
ENST00000684646.1:c.1793T>A	ENSP00000507723.1:p.Ile598Lys
ENST00000309971.9:c.2006T>A MANE Select	ENSP00000308622.5:p.Ile669Lys
ENST00000309971.8:c.2006T>A	ENSP00000308622.4:p.Ile669Lys
NM_001003722.1:c.2006T>A , LRG_484t1:c.2006T>A	NP_001003722.1:p.Ile669Lys
XM_006717059.2:c.2042T>A	XP_006717122.1:p.Ile681Lys
XM_006717060.2:c.2015T>A	XP_006717123.1:p.Ile672Lys
XM_011518549.1:c.2042T>A	XP_011516851.1:p.Ile681Lys
XM_011518550.1:c.2042T>A	XP_011516852.1:p.Ile681Lys
XM_011518551.1:c.2033T>A	XP_011516853.1:p.Ile678Lys
XM_011518552.1:c.1283T>A	XP_011516854.1:p.Ile428Lys
XR_242681.3:n.100+3063A>T
XR_428600.2:n.124+654A>T
XM_006717059.3:c.2042T>A	XP_006717122.1:p.Ile681Lys
XM_006717060.3:c.2015T>A	XP_006717123.1:p.Ile672Lys
XM_011518551.2:c.2033T>A	XP_011516853.1:p.Ile678Lys
XM_024447519.1:c.2015T>A	XP_024303287.1:p.Ile672Lys
XR_428600.3:n.126+654A>T
NM_001003722.2:c.2006T>A MANE Select	NP_001003722.1:p.Ile669Lys