Canonical Allele Identifier: CA467286722

Gene: GLE1

Linked Data

• dbSNP Id: rs2132542125
• gnomAD v4: 9-128540308-C-T
• MyVariant Identifiers: chr9:g.131302587C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540308C>T , CM000671.2:g.128540308C>T	GRCh38
NC_000009.11:g.131302587C>T , CM000671.1:g.131302587C>T	GRCh37
NC_000009.10:g.130342408C>T	NCBI36
NG_012073.1:g.40617C>T , LRG_484:g.40617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1069C>T	ENSP00000507095.1:n.*1069C>T
ENST00000683288.1:c.*1997C>T	ENSP00000507477.1:n.*1997C>T
ENST00000683748.1:c.2025C>T	ENSP00000507377.1:p.Gly675=
ENST00000683905.1:c.*674C>T	ENSP00000506960.1:n.*674C>T
ENST00000684139.1:c.1533C>T	ENSP00000507295.1:p.Gly511=
ENST00000684210.1:n.1711C>T
ENST00000684314.1:c.1893C>T	ENSP00000507700.1:p.Gly631=
ENST00000684331.1:c.1998C>T	ENSP00000507431.1:p.Gly666=
ENST00000684463.1:n.636C>T
ENST00000684646.1:c.1785C>T	ENSP00000507723.1:p.Gly595=
ENST00000309971.9:c.1998C>T MANE Select	ENSP00000308622.5:p.Gly666=
ENST00000309971.8:c.1998C>T	ENSP00000308622.4:p.Gly666=
NM_001003722.1:c.1998C>T , LRG_484t1:c.1998C>T	NP_001003722.1:p.Gly666=
XM_006717059.2:c.2034C>T	XP_006717122.1:p.Gly678=
XM_006717060.2:c.2007C>T	XP_006717123.1:p.Gly669=
XM_011518549.1:c.2034C>T	XP_011516851.1:p.Gly678=
XM_011518550.1:c.2034C>T	XP_011516852.1:p.Gly678=
XM_011518551.1:c.2025C>T	XP_011516853.1:p.Gly675=
XM_011518552.1:c.1275C>T	XP_011516854.1:p.Gly425=
XR_242681.3:n.100+3071G>A
XR_428600.2:n.124+662G>A
XM_006717059.3:c.2034C>T	XP_006717122.1:p.Gly678=
XM_006717060.3:c.2007C>T	XP_006717123.1:p.Gly669=
XM_011518551.2:c.2025C>T	XP_011516853.1:p.Gly675=
XM_024447519.1:c.2007C>T	XP_024303287.1:p.Gly669=
XR_428600.3:n.126+662G>A
NM_001003722.2:c.1998C>T MANE Select	NP_001003722.1:p.Gly666=