Canonical Allele Identifier: CA467286703

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540281-A-G
• MyVariant Identifiers: chr9:g.131302560A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540281A>G , CM000671.2:g.128540281A>G	GRCh38
NC_000009.11:g.131302560A>G , CM000671.1:g.131302560A>G	GRCh37
NC_000009.10:g.130342381A>G	NCBI36
NG_012073.1:g.40590A>G , LRG_484:g.40590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1042A>G	ENSP00000507095.1:n.*1042A>G
ENST00000683288.1:c.*1970A>G	ENSP00000507477.1:n.*1970A>G
ENST00000683748.1:c.1998A>G	ENSP00000507377.1:p.Glu666=
ENST00000683905.1:c.*647A>G	ENSP00000506960.1:n.*647A>G
ENST00000684139.1:c.1506A>G	ENSP00000507295.1:p.Glu502=
ENST00000684210.1:n.1684A>G
ENST00000684314.1:c.1866A>G	ENSP00000507700.1:p.Glu622=
ENST00000684331.1:c.1971A>G	ENSP00000507431.1:p.Glu657=
ENST00000684463.1:n.609A>G
ENST00000684646.1:c.1758A>G	ENSP00000507723.1:p.Glu586=
ENST00000309971.9:c.1971A>G MANE Select	ENSP00000308622.5:p.Glu657=
ENST00000309971.8:c.1971A>G	ENSP00000308622.4:p.Glu657=
NM_001003722.1:c.1971A>G , LRG_484t1:c.1971A>G	NP_001003722.1:p.Glu657=
XM_006717059.2:c.2007A>G	XP_006717122.1:p.Glu669=
XM_006717060.2:c.1980A>G	XP_006717123.1:p.Glu660=
XM_011518549.1:c.2007A>G	XP_011516851.1:p.Glu669=
XM_011518550.1:c.2007A>G	XP_011516852.1:p.Glu669=
XM_011518551.1:c.1998A>G	XP_011516853.1:p.Glu666=
XM_011518552.1:c.1248A>G	XP_011516854.1:p.Glu416=
XR_242681.3:n.100+3098T>C
XR_428600.2:n.124+689T>C
XM_006717059.3:c.2007A>G	XP_006717122.1:p.Glu669=
XM_006717060.3:c.1980A>G	XP_006717123.1:p.Glu660=
XM_011518551.2:c.1998A>G	XP_011516853.1:p.Glu666=
XM_024447519.1:c.1980A>G	XP_024303287.1:p.Glu660=
XR_428600.3:n.126+689T>C
NM_001003722.2:c.1971A>G MANE Select	NP_001003722.1:p.Glu657=