Canonical Allele Identifier: CA375046213

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540301-A-G
• MyVariant Identifiers: chr9:g.131302580A>G (hg19) ; chr9:g.128540301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540301A>G , CM000671.2:g.128540301A>G	GRCh38
NC_000009.11:g.131302580A>G , CM000671.1:g.131302580A>G	GRCh37
NC_000009.10:g.130342401A>G	NCBI36
NG_012073.1:g.40610A>G , LRG_484:g.40610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1062A>G	ENSP00000507095.1:n.*1062A>G
ENST00000683288.1:c.*1990A>G	ENSP00000507477.1:n.*1990A>G
ENST00000683748.1:c.2018A>G	ENSP00000507377.1:p.Gln673Arg
ENST00000683905.1:c.*667A>G	ENSP00000506960.1:n.*667A>G
ENST00000684139.1:c.1526A>G	ENSP00000507295.1:p.Gln509Arg
ENST00000684210.1:n.1704A>G
ENST00000684314.1:c.1886A>G	ENSP00000507700.1:p.Gln629Arg
ENST00000684331.1:c.1991A>G	ENSP00000507431.1:p.Gln664Arg
ENST00000684463.1:n.629A>G
ENST00000684646.1:c.1778A>G	ENSP00000507723.1:p.Gln593Arg
ENST00000309971.9:c.1991A>G MANE Select	ENSP00000308622.5:p.Gln664Arg
ENST00000309971.8:c.1991A>G	ENSP00000308622.4:p.Gln664Arg
NM_001003722.1:c.1991A>G , LRG_484t1:c.1991A>G	NP_001003722.1:p.Gln664Arg
XM_006717059.2:c.2027A>G	XP_006717122.1:p.Gln676Arg
XM_006717060.2:c.2000A>G	XP_006717123.1:p.Gln667Arg
XM_011518549.1:c.2027A>G	XP_011516851.1:p.Gln676Arg
XM_011518550.1:c.2027A>G	XP_011516852.1:p.Gln676Arg
XM_011518551.1:c.2018A>G	XP_011516853.1:p.Gln673Arg
XM_011518552.1:c.1268A>G	XP_011516854.1:p.Gln423Arg
XR_242681.3:n.100+3078T>C
XR_428600.2:n.124+669T>C
XM_006717059.3:c.2027A>G	XP_006717122.1:p.Gln676Arg
XM_006717060.3:c.2000A>G	XP_006717123.1:p.Gln667Arg
XM_011518551.2:c.2018A>G	XP_011516853.1:p.Gln673Arg
XM_024447519.1:c.2000A>G	XP_024303287.1:p.Gln667Arg
XR_428600.3:n.126+669T>C
NM_001003722.2:c.1991A>G MANE Select	NP_001003722.1:p.Gln664Arg