Canonical Allele Identifier: CA375046449

Gene: GLE1

Linked Data

• dbSNP Id: rs1017545536
• gnomAD v2: 9-131303445-C-G
• gnomAD v4: 9-128541166-C-G
• MyVariant Identifiers: chr9:g.131303445C>G (hg19) ; chr9:g.128541166C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1164C>G	ENSP00000507095.1:n.*1164C>G
ENST00000683288.1:c.*2092C>G	ENSP00000507477.1:n.*2092C>G
ENST00000683748.1:c.2120C>G	ENSP00000507377.1:p.Ser707Cys
ENST00000683905.1:c.*769C>G	ENSP00000506960.1:n.*769C>G
ENST00000684139.1:c.1628C>G	ENSP00000507295.1:p.Ser543Cys
ENST00000684210.1:n.1806C>G
ENST00000684314.1:c.1988C>G	ENSP00000507700.1:p.Ser663Cys
ENST00000684331.1:c.*813C>G	ENSP00000507431.1:n.*813C>G
ENST00000684463.1:n.731C>G
ENST00000684646.1:c.1880C>G	ENSP00000507723.1:p.Ser627Cys
ENST00000309971.9:c.2093C>G MANE Select	ENSP00000308622.5:p.Ser698Cys
ENST00000309971.8:c.2093C>G	ENSP00000308622.4:p.Ser698Cys
NM_001003722.1:c.2093C>G , LRG_484t1:c.2093C>G	NP_001003722.1:p.Ser698Cys
XM_006717059.2:c.2129C>G	XP_006717122.1:p.Ser710Cys
XM_006717060.2:c.2102C>G	XP_006717123.1:p.Ser701Cys
XM_011518549.1:c.2129C>G	XP_011516851.1:p.Ser710Cys
XM_011518550.1:c.2129C>G	XP_011516852.1:p.Ser710Cys
XM_011518551.1:c.2120C>G	XP_011516853.1:p.Ser707Cys
XM_011518552.1:c.1370C>G	XP_011516854.1:p.Ser457Cys
XR_242681.3:n.100+2213G>C
XM_006717059.3:c.2129C>G	XP_006717122.1:p.Ser710Cys
XM_006717060.3:c.2102C>G	XP_006717123.1:p.Ser701Cys
XM_011518551.2:c.2120C>G	XP_011516853.1:p.Ser707Cys
XM_024447519.1:c.2102C>G	XP_024303287.1:p.Ser701Cys
NM_001003722.2:c.2093C>G MANE Select	NP_001003722.1:p.Ser698Cys