Canonical Allele Identifier: CA5263936

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128536432G>A , CM000671.2:g.128536432G>A	GRCh38
NC_000009.11:g.131298711G>A , CM000671.1:g.131298711G>A	GRCh37
NC_000009.10:g.130338532G>A	NCBI36
NG_012073.1:g.36741G>A , LRG_484:g.36741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*795G>A	ENSP00000507095.1:n.*795G>A
ENST00000683288.1:c.*1723G>A	ENSP00000507477.1:n.*1723G>A
ENST00000683748.1:c.1751G>A	ENSP00000507377.1:p.Arg584His
ENST00000683905.1:c.*400G>A	ENSP00000506960.1:n.*400G>A
ENST00000684139.1:c.1259G>A	ENSP00000507295.1:p.Arg420His
ENST00000684210.1:n.1437G>A
ENST00000684314.1:c.1724G>A	ENSP00000507700.1:p.Arg575His
ENST00000684331.1:c.1724G>A	ENSP00000507431.1:p.Arg575His
ENST00000684463.1:n.362G>A
ENST00000684646.1:c.1511G>A	ENSP00000507723.1:p.Arg504His
ENST00000309971.9:c.1724G>A MANE Select	ENSP00000308622.5:p.Arg575His
ENST00000309971.8:c.1724G>A	ENSP00000308622.4:p.Arg575His
ENST00000372770.4:c.1724G>A	ENSP00000361856.4:p.Arg575His
NM_001003722.1:c.1724G>A , LRG_484t1:c.1724G>A	NP_001003722.1:p.Arg575His
NM_001499.2:c.1724G>A , LRG_484t2:c.1724G>A	NP_001490.1:p.Arg575His
XM_006717059.2:c.1760G>A	XP_006717122.1:p.Arg587His
XM_006717060.2:c.1733G>A	XP_006717123.1:p.Arg578His
XM_011518549.1:c.1760G>A	XP_011516851.1:p.Arg587His
XM_011518550.1:c.1760G>A	XP_011516852.1:p.Arg587His
XM_011518551.1:c.1751G>A	XP_011516853.1:p.Arg584His
XM_011518552.1:c.1001G>A	XP_011516854.1:p.Arg334His
XR_242681.3:n.229+395C>T
XR_428600.2:n.253+395C>T
XM_006717059.3:c.1760G>A	XP_006717122.1:p.Arg587His
XM_006717060.3:c.1733G>A	XP_006717123.1:p.Arg578His
XM_011518551.2:c.1751G>A	XP_011516853.1:p.Arg584His
XM_024447519.1:c.1733G>A	XP_024303287.1:p.Arg578His
XR_428600.3:n.255+395C>T
NM_001003722.2:c.1724G>A MANE Select	NP_001003722.1:p.Arg575His