Canonical Allele Identifier: CA375046343

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541115-A-G
• MyVariant Identifiers: chr9:g.131303394A>G (hg19) ; chr9:g.128541115A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541115A>G , CM000671.2:g.128541115A>G	GRCh38
NC_000009.11:g.131303394A>G , CM000671.1:g.131303394A>G	GRCh37
NC_000009.10:g.130343215A>G	NCBI36
NG_012073.1:g.41424A>G , LRG_484:g.41424A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1113A>G	ENSP00000507095.1:n.*1113A>G
ENST00000683288.1:c.*2041A>G	ENSP00000507477.1:n.*2041A>G
ENST00000683748.1:c.2069A>G	ENSP00000507377.1:p.His690Arg
ENST00000683905.1:c.*718A>G	ENSP00000506960.1:n.*718A>G
ENST00000684139.1:c.1577A>G	ENSP00000507295.1:p.His526Arg
ENST00000684210.1:n.1755A>G
ENST00000684314.1:c.1937A>G	ENSP00000507700.1:p.His646Arg
ENST00000684331.1:c.*762A>G	ENSP00000507431.1:n.*762A>G
ENST00000684463.1:n.680A>G
ENST00000684646.1:c.1829A>G	ENSP00000507723.1:p.His610Arg
ENST00000309971.9:c.2042A>G MANE Select	ENSP00000308622.5:p.His681Arg
ENST00000309971.8:c.2042A>G	ENSP00000308622.4:p.His681Arg
NM_001003722.1:c.2042A>G , LRG_484t1:c.2042A>G	NP_001003722.1:p.His681Arg
XM_006717059.2:c.2078A>G	XP_006717122.1:p.His693Arg
XM_006717060.2:c.2051A>G	XP_006717123.1:p.His684Arg
XM_011518549.1:c.2078A>G	XP_011516851.1:p.His693Arg
XM_011518550.1:c.2078A>G	XP_011516852.1:p.His693Arg
XM_011518551.1:c.2069A>G	XP_011516853.1:p.His690Arg
XM_011518552.1:c.1319A>G	XP_011516854.1:p.His440Arg
XR_242681.3:n.100+2264T>C
XM_006717059.3:c.2078A>G	XP_006717122.1:p.His693Arg
XM_006717060.3:c.2051A>G	XP_006717123.1:p.His684Arg
XM_011518551.2:c.2069A>G	XP_011516853.1:p.His690Arg
XM_024447519.1:c.2051A>G	XP_024303287.1:p.His684Arg
NM_001003722.2:c.2042A>G MANE Select	NP_001003722.1:p.His681Arg