Canonical Allele Identifier: CA467288890

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541164-C-A
• MyVariant Identifiers: chr9:g.131303443C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541164C>A , CM000671.2:g.128541164C>A	GRCh38
NC_000009.11:g.131303443C>A , CM000671.1:g.131303443C>A	GRCh37
NC_000009.10:g.130343264C>A	NCBI36
NG_012073.1:g.41473C>A , LRG_484:g.41473C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1162C>A	ENSP00000507095.1:n.*1162C>A
ENST00000683288.1:c.*2090C>A	ENSP00000507477.1:n.*2090C>A
ENST00000683748.1:c.2118C>A	ENSP00000507377.1:p.Arg706=
ENST00000683905.1:c.*767C>A	ENSP00000506960.1:n.*767C>A
ENST00000684139.1:c.1626C>A	ENSP00000507295.1:p.Arg542=
ENST00000684210.1:n.1804C>A
ENST00000684314.1:c.1986C>A	ENSP00000507700.1:p.Arg662=
ENST00000684331.1:c.*811C>A	ENSP00000507431.1:n.*811C>A
ENST00000684463.1:n.729C>A
ENST00000684646.1:c.1878C>A	ENSP00000507723.1:p.Arg626=
ENST00000309971.9:c.2091C>A MANE Select	ENSP00000308622.5:p.Arg697=
ENST00000309971.8:c.2091C>A	ENSP00000308622.4:p.Arg697=
NM_001003722.1:c.2091C>A , LRG_484t1:c.2091C>A	NP_001003722.1:p.Arg697=
XM_006717059.2:c.2127C>A	XP_006717122.1:p.Arg709=
XM_006717060.2:c.2100C>A	XP_006717123.1:p.Arg700=
XM_011518549.1:c.2127C>A	XP_011516851.1:p.Arg709=
XM_011518550.1:c.2127C>A	XP_011516852.1:p.Arg709=
XM_011518551.1:c.2118C>A	XP_011516853.1:p.Arg706=
XM_011518552.1:c.1368C>A	XP_011516854.1:p.Arg456=
XR_242681.3:n.100+2215G>T
XM_006717059.3:c.2127C>A	XP_006717122.1:p.Arg709=
XM_006717060.3:c.2100C>A	XP_006717123.1:p.Arg700=
XM_011518551.2:c.2118C>A	XP_011516853.1:p.Arg706=
XM_024447519.1:c.2100C>A	XP_024303287.1:p.Arg700=
NM_001003722.2:c.2091C>A MANE Select	NP_001003722.1:p.Arg697=