Canonical Allele Identifier: CA467286754

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540329-G-A
• MyVariant Identifiers: chr9:g.131302608G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540329G>A , CM000671.2:g.128540329G>A	GRCh38
NC_000009.11:g.131302608G>A , CM000671.1:g.131302608G>A	GRCh37
NC_000009.10:g.130342429G>A	NCBI36
NG_012073.1:g.40638G>A , LRG_484:g.40638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1090G>A	ENSP00000507095.1:n.*1090G>A
ENST00000683288.1:c.*2018G>A	ENSP00000507477.1:n.*2018G>A
ENST00000683748.1:c.2046G>A	ENSP00000507377.1:p.Gln682=
ENST00000683905.1:c.*695G>A	ENSP00000506960.1:n.*695G>A
ENST00000684139.1:c.1554G>A	ENSP00000507295.1:p.Gln518=
ENST00000684210.1:n.1732G>A
ENST00000684314.1:c.1914G>A	ENSP00000507700.1:p.Gln638=
ENST00000684331.1:c.2019G>A	ENSP00000507431.1:p.Gln673=
ENST00000684463.1:n.657G>A
ENST00000684646.1:c.1806G>A	ENSP00000507723.1:p.Gln602=
ENST00000309971.9:c.2019G>A MANE Select	ENSP00000308622.5:p.Gln673=
ENST00000309971.8:c.2019G>A	ENSP00000308622.4:p.Gln673=
NM_001003722.1:c.2019G>A , LRG_484t1:c.2019G>A	NP_001003722.1:p.Gln673=
XM_006717059.2:c.2055G>A	XP_006717122.1:p.Gln685=
XM_006717060.2:c.2028G>A	XP_006717123.1:p.Gln676=
XM_011518549.1:c.2055G>A	XP_011516851.1:p.Gln685=
XM_011518550.1:c.2055G>A	XP_011516852.1:p.Gln685=
XM_011518551.1:c.2046G>A	XP_011516853.1:p.Gln682=
XM_011518552.1:c.1296G>A	XP_011516854.1:p.Gln432=
XR_242681.3:n.100+3050C>T
XR_428600.2:n.124+641C>T
XM_006717059.3:c.2055G>A	XP_006717122.1:p.Gln685=
XM_006717060.3:c.2028G>A	XP_006717123.1:p.Gln676=
XM_011518551.2:c.2046G>A	XP_011516853.1:p.Gln682=
XM_024447519.1:c.2028G>A	XP_024303287.1:p.Gln676=
XR_428600.3:n.126+641C>T
NM_001003722.2:c.2019G>A MANE Select	NP_001003722.1:p.Gln673=