Canonical Allele Identifier: CA375046334

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541112-A-G
• MyVariant Identifiers: chr9:g.131303391A>G (hg19) ; chr9:g.128541112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541112A>G , CM000671.2:g.128541112A>G	GRCh38
NC_000009.11:g.131303391A>G , CM000671.1:g.131303391A>G	GRCh37
NC_000009.10:g.130343212A>G	NCBI36
NG_012073.1:g.41421A>G , LRG_484:g.41421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1110A>G	ENSP00000507095.1:n.*1110A>G
ENST00000683288.1:c.*2038A>G	ENSP00000507477.1:n.*2038A>G
ENST00000683748.1:c.2066A>G	ENSP00000507377.1:p.Gln689Arg
ENST00000683905.1:c.*715A>G	ENSP00000506960.1:n.*715A>G
ENST00000684139.1:c.1574A>G	ENSP00000507295.1:p.Gln525Arg
ENST00000684210.1:n.1752A>G
ENST00000684314.1:c.1934A>G	ENSP00000507700.1:p.Gln645Arg
ENST00000684331.1:c.*759A>G	ENSP00000507431.1:n.*759A>G
ENST00000684463.1:n.677A>G
ENST00000684646.1:c.1826A>G	ENSP00000507723.1:p.Gln609Arg
ENST00000309971.9:c.2039A>G MANE Select	ENSP00000308622.5:p.Gln680Arg
ENST00000309971.8:c.2039A>G	ENSP00000308622.4:p.Gln680Arg
NM_001003722.1:c.2039A>G , LRG_484t1:c.2039A>G	NP_001003722.1:p.Gln680Arg
XM_006717059.2:c.2075A>G	XP_006717122.1:p.Gln692Arg
XM_006717060.2:c.2048A>G	XP_006717123.1:p.Gln683Arg
XM_011518549.1:c.2075A>G	XP_011516851.1:p.Gln692Arg
XM_011518550.1:c.2075A>G	XP_011516852.1:p.Gln692Arg
XM_011518551.1:c.2066A>G	XP_011516853.1:p.Gln689Arg
XM_011518552.1:c.1316A>G	XP_011516854.1:p.Gln439Arg
XR_242681.3:n.100+2267T>C
XM_006717059.3:c.2075A>G	XP_006717122.1:p.Gln692Arg
XM_006717060.3:c.2048A>G	XP_006717123.1:p.Gln683Arg
XM_011518551.2:c.2066A>G	XP_011516853.1:p.Gln689Arg
XM_024447519.1:c.2048A>G	XP_024303287.1:p.Gln683Arg
NM_001003722.2:c.2039A>G MANE Select	NP_001003722.1:p.Gln680Arg