Canonical Allele Identifier: CA467288902

Gene: GLE1

Linked Data

• ClinVar Variation Id: 2003468
• ClinVar RCV Id: RCV002811201
• dbSNP Id: rs1847874512
• MyVariant Identifiers: chr9:g.131303446C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541167C>G , CM000671.2:g.128541167C>G	GRCh38
NC_000009.11:g.131303446C>G , CM000671.1:g.131303446C>G	GRCh37
NC_000009.10:g.130343267C>G	NCBI36
NG_012073.1:g.41476C>G , LRG_484:g.41476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1165C>G	ENSP00000507095.1:n.*1165C>G
ENST00000683288.1:c.*2093C>G	ENSP00000507477.1:n.*2093C>G
ENST00000683748.1:c.2121C>G	ENSP00000507377.1:p.Ser707=
ENST00000683905.1:c.*770C>G	ENSP00000506960.1:n.*770C>G
ENST00000684139.1:c.1629C>G	ENSP00000507295.1:p.Ser543=
ENST00000684210.1:n.1807C>G
ENST00000684314.1:c.1989C>G	ENSP00000507700.1:p.Ser663=
ENST00000684331.1:c.*814C>G	ENSP00000507431.1:n.*814C>G
ENST00000684463.1:n.732C>G
ENST00000684646.1:c.1881C>G	ENSP00000507723.1:p.Ser627=
ENST00000309971.9:c.2094C>G MANE Select	ENSP00000308622.5:p.Ser698=
ENST00000309971.8:c.2094C>G	ENSP00000308622.4:p.Ser698=
NM_001003722.1:c.2094C>G , LRG_484t1:c.2094C>G	NP_001003722.1:p.Ser698=
XM_006717059.2:c.2130C>G	XP_006717122.1:p.Ser710=
XM_006717060.2:c.2103C>G	XP_006717123.1:p.Ser701=
XM_011518549.1:c.2130C>G	XP_011516851.1:p.Ser710=
XM_011518550.1:c.2130C>G	XP_011516852.1:p.Ser710=
XM_011518551.1:c.2121C>G	XP_011516853.1:p.Ser707=
XM_011518552.1:c.1371C>G	XP_011516854.1:p.Ser457=
XR_242681.3:n.100+2212G>C
XM_006717059.3:c.2130C>G	XP_006717122.1:p.Ser710=
XM_006717060.3:c.2103C>G	XP_006717123.1:p.Ser701=
XM_011518551.2:c.2121C>G	XP_011516853.1:p.Ser707=
XM_024447519.1:c.2103C>G	XP_024303287.1:p.Ser701=
NM_001003722.2:c.2094C>G MANE Select	NP_001003722.1:p.Ser698=