Canonical Allele Identifier: CA5264047

Gene: GLE1

Linked Data

• dbSNP Id: rs764596414
• ExAC: 9:131303330 G / A
• gnomAD v2: 9-131303330-G-A
• gnomAD v3: 9-128541051-G-A
• gnomAD v4: 9-128541051-G-A
• MyVariant Identifiers: chr9:g.131303330G>A (hg19) ; chr9:g.128541051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541051G>A , CM000671.2:g.128541051G>A	GRCh38
NC_000009.11:g.131303330G>A , CM000671.1:g.131303330G>A	GRCh37
NC_000009.10:g.130343151G>A	NCBI36
NG_012073.1:g.41360G>A , LRG_484:g.41360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1100-51G>A	ENSP00000507095.1:n.*1100-51G>A
ENST00000683288.1:c.*2028-51G>A	ENSP00000507477.1:n.*2028-51G>A
ENST00000683748.1:c.2056-51G>A	ENSP00000507377.1:n.2056-51G>A
ENST00000683905.1:c.*705-51G>A	ENSP00000506960.1:n.*705-51G>A
ENST00000684139.1:c.1564-51G>A	ENSP00000507295.1:n.1564-51G>A
ENST00000684210.1:n.1742-51G>A
ENST00000684314.1:c.1924-51G>A	ENSP00000507700.1:n.1924-51G>A
ENST00000684331.1:c.*698G>A	ENSP00000507431.1:n.*698G>A
ENST00000684463.1:n.667-51G>A
ENST00000684646.1:c.1816-51G>A	ENSP00000507723.1:n.1816-51G>A
ENST00000309971.9:c.2029-51G>A MANE Select	ENSP00000308622.5:n.2029-51G>A
ENST00000309971.8:c.2029-51G>A	ENSP00000308622.4:n.2029-51G>A
NM_001003722.1:c.2029-51G>A , LRG_484t1:c.2029-51G>A	NP_001003722.1:n.2029-51G>A
XM_006717059.2:c.2065-51G>A	XP_006717122.1:n.2065-51G>A
XM_006717060.2:c.2038-51G>A	XP_006717123.1:n.2038-51G>A
XM_011518549.1:c.2065-51G>A	XP_011516851.1:n.2065-51G>A
XM_011518550.1:c.2065-51G>A	XP_011516852.1:n.2065-51G>A
XM_011518551.1:c.2056-51G>A	XP_011516853.1:n.2056-51G>A
XM_011518552.1:c.1306-51G>A	XP_011516854.1:n.1306-51G>A
XR_242681.3:n.100+2328C>T
XR_428600.2:n.43C>T
XM_006717059.3:c.2065-51G>A	XP_006717122.1:n.2065-51G>A
XM_006717060.3:c.2038-51G>A	XP_006717123.1:n.2038-51G>A
XM_011518551.2:c.2056-51G>A	XP_011516853.1:n.2056-51G>A
XM_024447519.1:c.2038-51G>A	XP_024303287.1:n.2038-51G>A
XR_428600.3:n.45C>T
NM_001003722.2:c.2029-51G>A MANE Select	NP_001003722.1:n.2029-51G>A