Canonical Allele Identifier: CA200395438

Gene: GLE1

Linked Data

• dbSNP Id: rs201860812
• gnomAD v2: 9-131303418-G-A
• gnomAD v4: 9-128541139-G-A
• MyVariant Identifiers: chr9:g.131303418G>A (hg19) ; chr9:g.128541139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541139G>A , CM000671.2:g.128541139G>A	GRCh38
NC_000009.11:g.131303418G>A , CM000671.1:g.131303418G>A	GRCh37
NC_000009.10:g.130343239G>A	NCBI36
NG_012073.1:g.41448G>A , LRG_484:g.41448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1137G>A	ENSP00000507095.1:n.*1137G>A
ENST00000683288.1:c.*2065G>A	ENSP00000507477.1:n.*2065G>A
ENST00000683748.1:c.2093G>A	ENSP00000507377.1:p.Gly698Asp
ENST00000683905.1:c.*742G>A	ENSP00000506960.1:n.*742G>A
ENST00000684139.1:c.1601G>A	ENSP00000507295.1:p.Gly534Asp
ENST00000684210.1:n.1779G>A
ENST00000684314.1:c.1961G>A	ENSP00000507700.1:p.Gly654Asp
ENST00000684331.1:c.*786G>A	ENSP00000507431.1:n.*786G>A
ENST00000684463.1:n.704G>A
ENST00000684646.1:c.1853G>A	ENSP00000507723.1:p.Gly618Asp
ENST00000309971.9:c.2066G>A MANE Select	ENSP00000308622.5:p.Gly689Asp
ENST00000309971.8:c.2066G>A	ENSP00000308622.4:p.Gly689Asp
NM_001003722.1:c.2066G>A , LRG_484t1:c.2066G>A	NP_001003722.1:p.Gly689Asp
XM_006717059.2:c.2102G>A	XP_006717122.1:p.Gly701Asp
XM_006717060.2:c.2075G>A	XP_006717123.1:p.Gly692Asp
XM_011518549.1:c.2102G>A	XP_011516851.1:p.Gly701Asp
XM_011518550.1:c.2102G>A	XP_011516852.1:p.Gly701Asp
XM_011518551.1:c.2093G>A	XP_011516853.1:p.Gly698Asp
XM_011518552.1:c.1343G>A	XP_011516854.1:p.Gly448Asp
XR_242681.3:n.100+2240C>T
XM_006717059.3:c.2102G>A	XP_006717122.1:p.Gly701Asp
XM_006717060.3:c.2075G>A	XP_006717123.1:p.Gly692Asp
XM_011518551.2:c.2093G>A	XP_011516853.1:p.Gly698Asp
XM_024447519.1:c.2075G>A	XP_024303287.1:p.Gly692Asp
NM_001003722.2:c.2066G>A MANE Select	NP_001003722.1:p.Gly689Asp