Canonical Allele Identifier: CA5264056

Gene: GLE1

Linked Data

• ClinVar Variation Id: 1914250
• ClinVar RCV Id: RCV002590324
• dbSNP Id: rs746024903
• ExAC: 9:131303377 C / A
• gnomAD v2: 9-131303377-C-A
• gnomAD v4: 9-128541098-C-A
• MyVariant Identifiers: chr9:g.131303377C>A (hg19) ; chr9:g.128541098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541098C>A , CM000671.2:g.128541098C>A	GRCh38
NC_000009.11:g.131303377C>A , CM000671.1:g.131303377C>A	GRCh37
NC_000009.10:g.130343198C>A	NCBI36
NG_012073.1:g.41407C>A , LRG_484:g.41407C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1100-4C>A	ENSP00000507095.1:n.*1100-4C>A
ENST00000683288.1:c.*2028-4C>A	ENSP00000507477.1:n.*2028-4C>A
ENST00000683748.1:c.2056-4C>A	ENSP00000507377.1:n.2056-4C>A
ENST00000683905.1:c.*705-4C>A	ENSP00000506960.1:n.*705-4C>A
ENST00000684139.1:c.1564-4C>A	ENSP00000507295.1:n.1564-4C>A
ENST00000684210.1:n.1742-4C>A
ENST00000684314.1:c.1924-4C>A	ENSP00000507700.1:n.1924-4C>A
ENST00000684331.1:c.*745C>A	ENSP00000507431.1:n.*745C>A
ENST00000684463.1:n.667-4C>A
ENST00000684646.1:c.1816-4C>A	ENSP00000507723.1:n.1816-4C>A
ENST00000309971.9:c.2029-4C>A MANE Select	ENSP00000308622.5:n.2029-4C>A
ENST00000309971.8:c.2029-4C>A	ENSP00000308622.4:n.2029-4C>A
NM_001003722.1:c.2029-4C>A , LRG_484t1:c.2029-4C>A	NP_001003722.1:n.2029-4C>A
XM_006717059.2:c.2065-4C>A	XP_006717122.1:n.2065-4C>A
XM_006717060.2:c.2038-4C>A	XP_006717123.1:n.2038-4C>A
XM_011518549.1:c.2065-4C>A	XP_011516851.1:n.2065-4C>A
XM_011518550.1:c.2065-4C>A	XP_011516852.1:n.2065-4C>A
XM_011518551.1:c.2056-4C>A	XP_011516853.1:n.2056-4C>A
XM_011518552.1:c.1306-4C>A	XP_011516854.1:n.1306-4C>A
XR_242681.3:n.100+2281G>T
XM_006717059.3:c.2065-4C>A	XP_006717122.1:n.2065-4C>A
XM_006717060.3:c.2038-4C>A	XP_006717123.1:n.2038-4C>A
XM_011518551.2:c.2056-4C>A	XP_011516853.1:n.2056-4C>A
XM_024447519.1:c.2038-4C>A	XP_024303287.1:n.2038-4C>A
NM_001003722.2:c.2029-4C>A MANE Select	NP_001003722.1:n.2029-4C>A