Canonical Allele Identifier: CA375046448

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541166-C-A
• MyVariant Identifiers: chr9:g.131303445C>A (hg19) ; chr9:g.128541166C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541166C>A , CM000671.2:g.128541166C>A	GRCh38
NC_000009.11:g.131303445C>A , CM000671.1:g.131303445C>A	GRCh37
NC_000009.10:g.130343266C>A	NCBI36
NG_012073.1:g.41475C>A , LRG_484:g.41475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1164C>A	ENSP00000507095.1:n.*1164C>A
ENST00000683288.1:c.*2092C>A	ENSP00000507477.1:n.*2092C>A
ENST00000683748.1:c.2120C>A	ENSP00000507377.1:p.Ser707Tyr
ENST00000683905.1:c.*769C>A	ENSP00000506960.1:n.*769C>A
ENST00000684139.1:c.1628C>A	ENSP00000507295.1:p.Ser543Tyr
ENST00000684210.1:n.1806C>A
ENST00000684314.1:c.1988C>A	ENSP00000507700.1:p.Ser663Tyr
ENST00000684331.1:c.*813C>A	ENSP00000507431.1:n.*813C>A
ENST00000684463.1:n.731C>A
ENST00000684646.1:c.1880C>A	ENSP00000507723.1:p.Ser627Tyr
ENST00000309971.9:c.2093C>A MANE Select	ENSP00000308622.5:p.Ser698Tyr
ENST00000309971.8:c.2093C>A	ENSP00000308622.4:p.Ser698Tyr
NM_001003722.1:c.2093C>A , LRG_484t1:c.2093C>A	NP_001003722.1:p.Ser698Tyr
XM_006717059.2:c.2129C>A	XP_006717122.1:p.Ser710Tyr
XM_006717060.2:c.2102C>A	XP_006717123.1:p.Ser701Tyr
XM_011518549.1:c.2129C>A	XP_011516851.1:p.Ser710Tyr
XM_011518550.1:c.2129C>A	XP_011516852.1:p.Ser710Tyr
XM_011518551.1:c.2120C>A	XP_011516853.1:p.Ser707Tyr
XM_011518552.1:c.1370C>A	XP_011516854.1:p.Ser457Tyr
XR_242681.3:n.100+2213G>T
XM_006717059.3:c.2129C>A	XP_006717122.1:p.Ser710Tyr
XM_006717060.3:c.2102C>A	XP_006717123.1:p.Ser701Tyr
XM_011518551.2:c.2120C>A	XP_011516853.1:p.Ser707Tyr
XM_024447519.1:c.2102C>A	XP_024303287.1:p.Ser701Tyr
NM_001003722.2:c.2093C>A MANE Select	NP_001003722.1:p.Ser698Tyr