Canonical Allele Identifier: CA2579487668

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540398C>A , CM000671.2:g.128540398C>A	GRCh38
NC_000009.11:g.131302677C>A , CM000671.1:g.131302677C>A	GRCh37
NC_000009.10:g.130342498C>A	NCBI36
NG_012073.1:g.40707C>A , LRG_484:g.40707C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1099+60C>A	ENSP00000507095.1:n.*1099+60C>A
ENST00000683288.1:c.*2027+60C>A	ENSP00000507477.1:n.*2027+60C>A
ENST00000683748.1:c.2055+60C>A	ENSP00000507377.1:n.2055+60C>A
ENST00000683905.1:c.*704+60C>A	ENSP00000506960.1:n.*704+60C>A
ENST00000684139.1:c.1563+60C>A	ENSP00000507295.1:n.1563+60C>A
ENST00000684210.1:n.1741+60C>A
ENST00000684314.1:c.1923+60C>A	ENSP00000507700.1:n.1923+60C>A
ENST00000684331.1:c.*45C>A	ENSP00000507431.1:n.*45C>A
ENST00000684463.1:n.666+60C>A
ENST00000684646.1:c.1815+60C>A	ENSP00000507723.1:n.1815+60C>A
ENST00000309971.9:c.2028+60C>A MANE Select	ENSP00000308622.5:n.2028+60C>A
ENST00000309971.8:c.2028+60C>A	ENSP00000308622.4:n.2028+60C>A
NM_001003722.1:c.2028+60C>A , LRG_484t1:c.2028+60C>A	NP_001003722.1:n.2028+60C>A
XM_006717059.2:c.2064+60C>A	XP_006717122.1:n.2064+60C>A
XM_006717060.2:c.2037+60C>A	XP_006717123.1:n.2037+60C>A
XM_011518549.1:c.2064+60C>A	XP_011516851.1:n.2064+60C>A
XM_011518550.1:c.2064+60C>A	XP_011516852.1:n.2064+60C>A
XM_011518551.1:c.2055+60C>A	XP_011516853.1:n.2055+60C>A
XM_011518552.1:c.1305+60C>A	XP_011516854.1:n.1305+60C>A
XR_242681.3:n.100+2981G>T
XR_428600.2:n.124+572G>T
XM_006717059.3:c.2064+60C>A	XP_006717122.1:n.2064+60C>A
XM_006717060.3:c.2037+60C>A	XP_006717123.1:n.2037+60C>A
XM_011518551.2:c.2055+60C>A	XP_011516853.1:n.2055+60C>A
XM_024447519.1:c.2037+60C>A	XP_024303287.1:n.2037+60C>A
XR_428600.3:n.126+572G>T
NM_001003722.2:c.2028+60C>A MANE Select	NP_001003722.1:n.2028+60C>A