Canonical Allele Identifier: CA375046445

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541165-T-A
• MyVariant Identifiers: chr9:g.131303444T>A (hg19) ; chr9:g.128541165T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541165T>A , CM000671.2:g.128541165T>A	GRCh38
NC_000009.11:g.131303444T>A , CM000671.1:g.131303444T>A	GRCh37
NC_000009.10:g.130343265T>A	NCBI36
NG_012073.1:g.41474T>A , LRG_484:g.41474T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1163T>A	ENSP00000507095.1:n.*1163T>A
ENST00000683288.1:c.*2091T>A	ENSP00000507477.1:n.*2091T>A
ENST00000683748.1:c.2119T>A	ENSP00000507377.1:p.Ser707Thr
ENST00000683905.1:c.*768T>A	ENSP00000506960.1:n.*768T>A
ENST00000684139.1:c.1627T>A	ENSP00000507295.1:p.Ser543Thr
ENST00000684210.1:n.1805T>A
ENST00000684314.1:c.1987T>A	ENSP00000507700.1:p.Ser663Thr
ENST00000684331.1:c.*812T>A	ENSP00000507431.1:n.*812T>A
ENST00000684463.1:n.730T>A
ENST00000684646.1:c.1879T>A	ENSP00000507723.1:p.Ser627Thr
ENST00000309971.9:c.2092T>A MANE Select	ENSP00000308622.5:p.Ser698Thr
ENST00000309971.8:c.2092T>A	ENSP00000308622.4:p.Ser698Thr
NM_001003722.1:c.2092T>A , LRG_484t1:c.2092T>A	NP_001003722.1:p.Ser698Thr
XM_006717059.2:c.2128T>A	XP_006717122.1:p.Ser710Thr
XM_006717060.2:c.2101T>A	XP_006717123.1:p.Ser701Thr
XM_011518549.1:c.2128T>A	XP_011516851.1:p.Ser710Thr
XM_011518550.1:c.2128T>A	XP_011516852.1:p.Ser710Thr
XM_011518551.1:c.2119T>A	XP_011516853.1:p.Ser707Thr
XM_011518552.1:c.1369T>A	XP_011516854.1:p.Ser457Thr
XR_242681.3:n.100+2214A>T
XM_006717059.3:c.2128T>A	XP_006717122.1:p.Ser710Thr
XM_006717060.3:c.2101T>A	XP_006717123.1:p.Ser701Thr
XM_011518551.2:c.2119T>A	XP_011516853.1:p.Ser707Thr
XM_024447519.1:c.2101T>A	XP_024303287.1:p.Ser701Thr
NM_001003722.2:c.2092T>A MANE Select	NP_001003722.1:p.Ser698Thr