Canonical Allele Identifier: CA1129339778

Gene: GLE1

Linked Data

• dbSNP Id: rs1847845385
• gnomAD v3: 9-128540220-C-T
• gnomAD v4: 9-128540220-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540220C>T , CM000671.2:g.128540220C>T	GRCh38
NC_000009.11:g.131302499C>T , CM000671.1:g.131302499C>T	GRCh37
NC_000009.10:g.130342320C>T	NCBI36
NG_012073.1:g.40529C>T , LRG_484:g.40529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1036-55C>T	ENSP00000507095.1:n.*1036-55C>T
ENST00000683288.1:c.*1964-55C>T	ENSP00000507477.1:n.*1964-55C>T
ENST00000683748.1:c.1992-55C>T	ENSP00000507377.1:n.1992-55C>T
ENST00000683905.1:c.*641-55C>T	ENSP00000506960.1:n.*641-55C>T
ENST00000684139.1:c.1500-55C>T	ENSP00000507295.1:n.1500-55C>T
ENST00000684210.1:n.1678-55C>T
ENST00000684314.1:c.1860-55C>T	ENSP00000507700.1:n.1860-55C>T
ENST00000684331.1:c.1965-55C>T	ENSP00000507431.1:n.1965-55C>T
ENST00000684463.1:n.603-55C>T
ENST00000684646.1:c.1752-55C>T	ENSP00000507723.1:n.1752-55C>T
ENST00000309971.9:c.1965-55C>T MANE Select	ENSP00000308622.5:n.1965-55C>T
ENST00000309971.8:c.1965-55C>T	ENSP00000308622.4:n.1965-55C>T
NM_001003722.1:c.1965-55C>T , LRG_484t1:c.1965-55C>T	NP_001003722.1:n.1965-55C>T
XM_006717059.2:c.2001-55C>T	XP_006717122.1:n.2001-55C>T
XM_006717060.2:c.1974-55C>T	XP_006717123.1:n.1974-55C>T
XM_011518549.1:c.2001-55C>T	XP_011516851.1:n.2001-55C>T
XM_011518550.1:c.2001-55C>T	XP_011516852.1:n.2001-55C>T
XM_011518551.1:c.1992-55C>T	XP_011516853.1:n.1992-55C>T
XM_011518552.1:c.1242-55C>T	XP_011516854.1:n.1242-55C>T
XR_242681.3:n.100+3159G>A
XR_428600.2:n.124+750G>A
XM_006717059.3:c.2001-55C>T	XP_006717122.1:n.2001-55C>T
XM_006717060.3:c.1974-55C>T	XP_006717123.1:n.1974-55C>T
XM_011518551.2:c.1992-55C>T	XP_011516853.1:n.1992-55C>T
XM_024447519.1:c.1974-55C>T	XP_024303287.1:n.1974-55C>T
XR_428600.3:n.126+750G>A
NM_001003722.2:c.1965-55C>T MANE Select	NP_001003722.1:n.1965-55C>T