Canonical Allele Identifier: CA10632738

Gene: GLE1

Linked Data

• ClinVar Variation Id: 365136
• ClinVar RCV Id: RCV000324283 ; RCV000371900 ; RCV001653749
• dbSNP Id: rs10760563
• gnomAD v2: 9-131303522-G-A
• gnomAD v3: 9-128541243-G-A
• gnomAD v4: 9-128541243-G-A
• MyVariant Identifiers: chr9:g.131303522G>A (hg19) ; chr9:g.128541243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541243G>A , CM000671.2:g.128541243G>A	GRCh38
NC_000009.11:g.131303522G>A , CM000671.1:g.131303522G>A	GRCh37
NC_000009.10:g.130343343G>A	NCBI36
NG_012073.1:g.41552G>A , LRG_484:g.41552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1241G>A	ENSP00000507095.1:n.*1241G>A
ENST00000683288.1:c.*2169G>A	ENSP00000507477.1:n.*2169G>A
ENST00000683748.1:c.*73G>A	ENSP00000507377.1:n.*73G>A
ENST00000683905.1:c.*846G>A	ENSP00000506960.1:n.*846G>A
ENST00000684139.1:c.*73G>A	ENSP00000507295.1:n.*73G>A
ENST00000684210.1:n.1883G>A
ENST00000684314.1:c.*73G>A	ENSP00000507700.1:n.*73G>A
ENST00000684331.1:c.*890G>A	ENSP00000507431.1:n.*890G>A
ENST00000684463.1:n.808G>A
ENST00000684646.1:c.*73G>A	ENSP00000507723.1:n.*73G>A
ENST00000309971.9:c.*73G>A MANE Select	ENSP00000308622.5:n.*73G>A
ENST00000309971.8:c.*73G>A	ENSP00000308622.4:n.*73G>A
NM_001003722.1:c.*73G>A , LRG_484t1:c.*73G>A	NP_001003722.1:n.*73G>A
XM_006717059.2:c.*73G>A	XP_006717122.1:n.*73G>A
XM_006717060.2:c.*73G>A	XP_006717123.1:n.*73G>A
XM_011518549.1:c.*73G>A	XP_011516851.1:n.*73G>A
XM_011518550.1:c.*73G>A	XP_011516852.1:n.*73G>A
XM_011518551.1:c.*73G>A	XP_011516853.1:n.*73G>A
XM_011518552.1:c.*73G>A	XP_011516854.1:n.*73G>A
XR_242681.3:n.100+2136C>T
XM_006717059.3:c.*73G>A	XP_006717122.1:n.*73G>A
XM_006717060.3:c.*73G>A	XP_006717123.1:n.*73G>A
XM_011518551.2:c.*73G>A	XP_011516853.1:n.*73G>A
XM_024447519.1:c.*73G>A	XP_024303287.1:n.*73G>A
NM_001003722.2:c.*73G>A MANE Select	NP_001003722.1:n.*73G>A