Canonical Allele Identifier: CA375046320

Gene: GLE1

Linked Data

• ClinVar Variation Id: 2297691
• ClinVar RCV Id: RCV002882427
• gnomAD v4: 9-128541106-G-A
• MyVariant Identifiers: chr9:g.131303385G>A (hg19) ; chr9:g.128541106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541106G>A , CM000671.2:g.128541106G>A	GRCh38
NC_000009.11:g.131303385G>A , CM000671.1:g.131303385G>A	GRCh37
NC_000009.10:g.130343206G>A	NCBI36
NG_012073.1:g.41415G>A , LRG_484:g.41415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1104G>A	ENSP00000507095.1:n.*1104G>A
ENST00000683288.1:c.*2032G>A	ENSP00000507477.1:n.*2032G>A
ENST00000683748.1:c.2060G>A	ENSP00000507377.1:p.Cys687Tyr
ENST00000683905.1:c.*709G>A	ENSP00000506960.1:n.*709G>A
ENST00000684139.1:c.1568G>A	ENSP00000507295.1:p.Cys523Tyr
ENST00000684210.1:n.1746G>A
ENST00000684314.1:c.1928G>A	ENSP00000507700.1:p.Cys643Tyr
ENST00000684331.1:c.*753G>A	ENSP00000507431.1:n.*753G>A
ENST00000684463.1:n.671G>A
ENST00000684646.1:c.1820G>A	ENSP00000507723.1:p.Cys607Tyr
ENST00000309971.9:c.2033G>A MANE Select	ENSP00000308622.5:p.Cys678Tyr
ENST00000309971.8:c.2033G>A	ENSP00000308622.4:p.Cys678Tyr
NM_001003722.1:c.2033G>A , LRG_484t1:c.2033G>A	NP_001003722.1:p.Cys678Tyr
XM_006717059.2:c.2069G>A	XP_006717122.1:p.Cys690Tyr
XM_006717060.2:c.2042G>A	XP_006717123.1:p.Cys681Tyr
XM_011518549.1:c.2069G>A	XP_011516851.1:p.Cys690Tyr
XM_011518550.1:c.2069G>A	XP_011516852.1:p.Cys690Tyr
XM_011518551.1:c.2060G>A	XP_011516853.1:p.Cys687Tyr
XM_011518552.1:c.1310G>A	XP_011516854.1:p.Cys437Tyr
XR_242681.3:n.100+2273C>T
XM_006717059.3:c.2069G>A	XP_006717122.1:p.Cys690Tyr
XM_006717060.3:c.2042G>A	XP_006717123.1:p.Cys681Tyr
XM_011518551.2:c.2060G>A	XP_011516853.1:p.Cys687Tyr
XM_024447519.1:c.2042G>A	XP_024303287.1:p.Cys681Tyr
NM_001003722.2:c.2033G>A MANE Select	NP_001003722.1:p.Cys678Tyr