Canonical Allele Identifier: CA467289124

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541195-C-A
• MyVariant Identifiers: chr9:g.131303474C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541195C>A , CM000671.2:g.128541195C>A	GRCh38
NC_000009.11:g.131303474C>A , CM000671.1:g.131303474C>A	GRCh37
NC_000009.10:g.130343295C>A	NCBI36
NG_012073.1:g.41504C>A , LRG_484:g.41504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1193C>A	ENSP00000507095.1:n.*1193C>A
ENST00000683288.1:c.*2121C>A	ENSP00000507477.1:n.*2121C>A
ENST00000683748.1:c.*25C>A	ENSP00000507377.1:n.*25C>A
ENST00000683905.1:c.*798C>A	ENSP00000506960.1:n.*798C>A
ENST00000684139.1:c.*25C>A	ENSP00000507295.1:n.*25C>A
ENST00000684210.1:n.1835C>A
ENST00000684314.1:c.*25C>A	ENSP00000507700.1:n.*25C>A
ENST00000684331.1:c.*842C>A	ENSP00000507431.1:n.*842C>A
ENST00000684463.1:n.760C>A
ENST00000684646.1:c.*25C>A	ENSP00000507723.1:n.*25C>A
ENST00000309971.9:c.*25C>A MANE Select	ENSP00000308622.5:n.*25C>A
ENST00000309971.8:c.*25C>A	ENSP00000308622.4:n.*25C>A
NM_001003722.1:c.*25C>A , LRG_484t1:c.*25C>A	NP_001003722.1:n.*25C>A
XM_006717059.2:c.*25C>A	XP_006717122.1:n.*25C>A
XM_006717060.2:c.*25C>A	XP_006717123.1:n.*25C>A
XM_011518549.1:c.*25C>A	XP_011516851.1:n.*25C>A
XM_011518550.1:c.*25C>A	XP_011516852.1:n.*25C>A
XM_011518551.1:c.*25C>A	XP_011516853.1:n.*25C>A
XM_011518552.1:c.*25C>A	XP_011516854.1:n.*25C>A
XR_242681.3:n.100+2184G>T
XM_006717059.3:c.*25C>A	XP_006717122.1:n.*25C>A
XM_006717060.3:c.*25C>A	XP_006717123.1:n.*25C>A
XM_011518551.2:c.*25C>A	XP_011516853.1:n.*25C>A
XM_024447519.1:c.*25C>A	XP_024303287.1:n.*25C>A
NM_001003722.2:c.*25C>A MANE Select	NP_001003722.1:n.*25C>A