Canonical Allele Identifier: CA5264063

Gene: GLE1

Linked Data

• ClinVar Variation Id: 2855887
• ClinVar RCV Id: RCV003701633
• dbSNP Id: rs762441779
• ExAC: 9:131303401 C / T
• gnomAD v2: 9-131303401-C-T
• gnomAD v4: 9-128541122-C-T
• MyVariant Identifiers: chr9:g.131303401C>T (hg19) ; chr9:g.128541122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541122C>T , CM000671.2:g.128541122C>T	GRCh38
NC_000009.11:g.131303401C>T , CM000671.1:g.131303401C>T	GRCh37
NC_000009.10:g.130343222C>T	NCBI36
NG_012073.1:g.41431C>T , LRG_484:g.41431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1120C>T	ENSP00000507095.1:n.*1120C>T
ENST00000683288.1:c.*2048C>T	ENSP00000507477.1:n.*2048C>T
ENST00000683748.1:c.2076C>T	ENSP00000507377.1:p.Asp692=
ENST00000683905.1:c.*725C>T	ENSP00000506960.1:n.*725C>T
ENST00000684139.1:c.1584C>T	ENSP00000507295.1:p.Asp528=
ENST00000684210.1:n.1762C>T
ENST00000684314.1:c.1944C>T	ENSP00000507700.1:p.Asp648=
ENST00000684331.1:c.*769C>T	ENSP00000507431.1:n.*769C>T
ENST00000684463.1:n.687C>T
ENST00000684646.1:c.1836C>T	ENSP00000507723.1:p.Asp612=
ENST00000309971.9:c.2049C>T MANE Select	ENSP00000308622.5:p.Asp683=
ENST00000309971.8:c.2049C>T	ENSP00000308622.4:p.Asp683=
NM_001003722.1:c.2049C>T , LRG_484t1:c.2049C>T	NP_001003722.1:p.Asp683=
XM_006717059.2:c.2085C>T	XP_006717122.1:p.Asp695=
XM_006717060.2:c.2058C>T	XP_006717123.1:p.Asp686=
XM_011518549.1:c.2085C>T	XP_011516851.1:p.Asp695=
XM_011518550.1:c.2085C>T	XP_011516852.1:p.Asp695=
XM_011518551.1:c.2076C>T	XP_011516853.1:p.Asp692=
XM_011518552.1:c.1326C>T	XP_011516854.1:p.Asp442=
XR_242681.3:n.100+2257G>A
XM_006717059.3:c.2085C>T	XP_006717122.1:p.Asp695=
XM_006717060.3:c.2058C>T	XP_006717123.1:p.Asp686=
XM_011518551.2:c.2076C>T	XP_011516853.1:p.Asp692=
XM_024447519.1:c.2058C>T	XP_024303287.1:p.Asp686=
NM_001003722.2:c.2049C>T MANE Select	NP_001003722.1:p.Asp683=