Canonical Allele Identifier: CA2579487654

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540239C>T , CM000671.2:g.128540239C>T	GRCh38
NC_000009.11:g.131302518C>T , CM000671.1:g.131302518C>T	GRCh37
NC_000009.10:g.130342339C>T	NCBI36
NG_012073.1:g.40548C>T , LRG_484:g.40548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1036-36C>T	ENSP00000507095.1:n.*1036-36C>T
ENST00000683288.1:c.*1964-36C>T	ENSP00000507477.1:n.*1964-36C>T
ENST00000683748.1:c.1992-36C>T	ENSP00000507377.1:n.1992-36C>T
ENST00000683905.1:c.*641-36C>T	ENSP00000506960.1:n.*641-36C>T
ENST00000684139.1:c.1500-36C>T	ENSP00000507295.1:n.1500-36C>T
ENST00000684210.1:n.1678-36C>T
ENST00000684314.1:c.1860-36C>T	ENSP00000507700.1:n.1860-36C>T
ENST00000684331.1:c.1965-36C>T	ENSP00000507431.1:n.1965-36C>T
ENST00000684463.1:n.603-36C>T
ENST00000684646.1:c.1752-36C>T	ENSP00000507723.1:n.1752-36C>T
ENST00000309971.9:c.1965-36C>T MANE Select	ENSP00000308622.5:n.1965-36C>T
ENST00000309971.8:c.1965-36C>T	ENSP00000308622.4:n.1965-36C>T
NM_001003722.1:c.1965-36C>T , LRG_484t1:c.1965-36C>T	NP_001003722.1:n.1965-36C>T
XM_006717059.2:c.2001-36C>T	XP_006717122.1:n.2001-36C>T
XM_006717060.2:c.1974-36C>T	XP_006717123.1:n.1974-36C>T
XM_011518549.1:c.2001-36C>T	XP_011516851.1:n.2001-36C>T
XM_011518550.1:c.2001-36C>T	XP_011516852.1:n.2001-36C>T
XM_011518551.1:c.1992-36C>T	XP_011516853.1:n.1992-36C>T
XM_011518552.1:c.1242-36C>T	XP_011516854.1:n.1242-36C>T
XR_242681.3:n.100+3140G>A
XR_428600.2:n.124+731G>A
XM_006717059.3:c.2001-36C>T	XP_006717122.1:n.2001-36C>T
XM_006717060.3:c.1974-36C>T	XP_006717123.1:n.1974-36C>T
XM_011518551.2:c.1992-36C>T	XP_011516853.1:n.1992-36C>T
XM_024447519.1:c.1974-36C>T	XP_024303287.1:n.1974-36C>T
XR_428600.3:n.126+731G>A
NM_001003722.2:c.1965-36C>T MANE Select	NP_001003722.1:n.1965-36C>T