Canonical Allele Identifier: CA5263928

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128536348C>T , CM000671.2:g.128536348C>T	GRCh38
NC_000009.11:g.131298627C>T , CM000671.1:g.131298627C>T	GRCh37
NC_000009.10:g.130338448C>T	NCBI36
NG_012073.1:g.36657C>T , LRG_484:g.36657C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001003722.2:c.1647-7C>T MANE Select	NP_001003722.1:n.1647-7C>T
ENST00000309971.9:c.1647-7C>T MANE Select	ENSP00000308622.5:n.1647-7C>T
NM_001003722.1:c.1647-7C>T , LRG_484t1:c.1647-7C>T	NP_001003722.1:n.1647-7C>T
NM_001499.2:c.1647-7C>T , LRG_484t2:c.1647-7C>T	NP_001490.1:n.1647-7C>T
ENST00000309971.8:c.1647-7C>T	ENSP00000308622.4:n.1647-7C>T
ENST00000372770.4:c.1647-7C>T	ENSP00000361856.4:n.1647-7C>T
ENST00000683044.1:c.*718-7C>T	ENSP00000507095.1:n.*718-7C>T
ENST00000683288.1:c.*1646-7C>T	ENSP00000507477.1:n.*1646-7C>T
ENST00000683748.1:c.1674-7C>T	ENSP00000507377.1:n.1674-7C>T
ENST00000683905.1:c.*323-7C>T	ENSP00000506960.1:n.*323-7C>T
ENST00000684139.1:c.1182-7C>T	ENSP00000507295.1:n.1182-7C>T
ENST00000684210.1:n.1360-7C>T
ENST00000684314.1:c.1647-7C>T	ENSP00000507700.1:n.1647-7C>T
ENST00000684331.1:c.1647-7C>T	ENSP00000507431.1:n.1647-7C>T
ENST00000684463.1:n.278C>T
ENST00000684646.1:c.1434-7C>T	ENSP00000507723.1:n.1434-7C>T
XM_006717059.2:c.1683-7C>T	XP_006717122.1:n.1683-7C>T
XM_006717059.3:c.1683-7C>T	XP_006717122.1:n.1683-7C>T
XM_006717060.2:c.1656-7C>T	XP_006717123.1:n.1656-7C>T
XM_006717060.3:c.1656-7C>T	XP_006717123.1:n.1656-7C>T
XM_011518549.1:c.1683-7C>T	XP_011516851.1:n.1683-7C>T
XM_011518550.1:c.1683-7C>T	XP_011516852.1:n.1683-7C>T
XM_011518551.1:c.1674-7C>T	XP_011516853.1:n.1674-7C>T
XM_011518551.2:c.1674-7C>T	XP_011516853.1:n.1674-7C>T
XM_011518552.1:c.924-7C>T	XP_011516854.1:n.924-7C>T
XM_024447519.1:c.1656-7C>T	XP_024303287.1:n.1656-7C>T
XR_242681.3:n.229+479G>A
XR_428600.2:n.253+479G>A
XR_428600.3:n.255+479G>A