Canonical Allele Identifier: CA1880332302

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540314C= , CM000671.2:g.128540314C=	GRCh38
NC_000009.11:g.131302593C= , CM000671.1:g.131302593C=	GRCh37
NC_000009.10:g.130342414C=	NCBI36
NG_012073.1:g.40623C= , LRG_484:g.40623C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1075C=	ENSP00000507095.1:n.*1075C=
ENST00000683288.1:c.*2003C=	ENSP00000507477.1:n.*2003C=
ENST00000683748.1:c.2031C=	ENSP00000507377.1:p.Phe677=
ENST00000683905.1:c.*680C=	ENSP00000506960.1:n.*680C=
ENST00000684139.1:c.1539C=	ENSP00000507295.1:p.Phe513=
ENST00000684210.1:n.1717C=
ENST00000684314.1:c.1899C=	ENSP00000507700.1:p.Phe633=
ENST00000684331.1:c.2004C=	ENSP00000507431.1:p.Phe668=
ENST00000684463.1:n.642C=
ENST00000684646.1:c.1791C=	ENSP00000507723.1:p.Phe597=
ENST00000309971.9:c.2004C= MANE Select	ENSP00000308622.5:p.Phe668=
ENST00000309971.8:c.2004C=	ENSP00000308622.4:p.Phe668=
NM_001003722.1:c.2004C= , LRG_484t1:c.2004C=	NP_001003722.1:p.Phe668=
XM_006717059.2:c.2040C=	XP_006717122.1:p.Phe680=
XM_006717060.2:c.2013C=	XP_006717123.1:p.Phe671=
XM_011518549.1:c.2040C=	XP_011516851.1:p.Phe680=
XM_011518550.1:c.2040C=	XP_011516852.1:p.Phe680=
XM_011518551.1:c.2031C=	XP_011516853.1:p.Phe677=
XM_011518552.1:c.1281C=	XP_011516854.1:p.Phe427=
XR_242681.3:n.100+3065G=
XR_428600.2:n.124+656G=
XM_006717059.3:c.2040C=	XP_006717122.1:p.Phe680=
XM_006717060.3:c.2013C=	XP_006717123.1:p.Phe671=
XM_011518551.2:c.2031C=	XP_011516853.1:p.Phe677=
XM_024447519.1:c.2013C=	XP_024303287.1:p.Phe671=
XR_428600.3:n.126+656G=
NM_001003722.2:c.2004C= MANE Select	NP_001003722.1:p.Phe668=