Canonical Allele Identifier: CA2691922919

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128522531T>C , CM000671.2:g.128522531T>C	GRCh38
NC_000009.11:g.131284810T>C , CM000671.1:g.131284810T>C	GRCh37
NC_000009.10:g.130324631T>C	NCBI36
NG_012073.1:g.22840T>C , LRG_484:g.22840T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001003722.2:c.433-137T>C MANE Select	NP_001003722.1:n.433-137T>C
ENST00000309971.9:c.433-137T>C MANE Select	ENSP00000308622.5:n.433-137T>C
NM_001003722.1:c.433-137T>C , LRG_484t1:c.433-137T>C	NP_001003722.1:n.433-137T>C
NM_001499.2:c.433-137T>C , LRG_484t2:c.433-137T>C	NP_001490.1:n.433-137T>C
ENST00000309971.8:c.433-137T>C	ENSP00000308622.4:n.433-137T>C
ENST00000372770.4:c.433-137T>C	ENSP00000361856.4:n.433-137T>C
ENST00000494417.2:n.537-137T>C
ENST00000682831.1:c.*3108T>C	ENSP00000508410.1:n.*3108T>C
ENST00000683044.1:c.433-137T>C	ENSP00000507095.1:n.433-137T>C
ENST00000683288.1:c.*432-137T>C	ENSP00000507477.1:n.*432-137T>C
ENST00000683748.1:c.433-137T>C	ENSP00000507377.1:n.433-137T>C
ENST00000683905.1:c.433-137T>C	ENSP00000506960.1:n.433-137T>C
ENST00000684139.1:c.433-2661T>C	ENSP00000507295.1:n.433-2661T>C
ENST00000684314.1:c.433-137T>C	ENSP00000507700.1:n.433-137T>C
ENST00000684331.1:c.433-137T>C	ENSP00000507431.1:n.433-137T>C
ENST00000684646.1:c.433-137T>C	ENSP00000507723.1:n.433-137T>C
XM_006717059.2:c.442-137T>C	XP_006717122.1:n.442-137T>C
XM_006717059.3:c.442-137T>C	XP_006717122.1:n.442-137T>C
XM_006717060.2:c.442-137T>C	XP_006717123.1:n.442-137T>C
XM_006717060.3:c.442-137T>C	XP_006717123.1:n.442-137T>C
XM_011518549.1:c.442-137T>C	XP_011516851.1:n.442-137T>C
XM_011518550.1:c.442-137T>C	XP_011516852.1:n.442-137T>C
XM_011518551.1:c.433-137T>C	XP_011516853.1:n.433-137T>C
XM_011518551.2:c.433-137T>C	XP_011516853.1:n.433-137T>C
XM_011518552.1:c.-313-137T>C	XP_011516854.1:n.-313-137T>C
XM_024447519.1:c.442-137T>C	XP_024303287.1:n.442-137T>C