Canonical Allele Identifier: CA467286711
Gene: GLE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131302569A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540290A>T , CM000671.2:g.128540290A>T GRCh38
NC_000009.11:g.131302569A>T , CM000671.1:g.131302569A>T GRCh37
NC_000009.10:g.130342390A>T NCBI36
NG_012073.1:g.40599A>T , LRG_484:g.40599A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1051A>T ENSP00000507095.1:n.*1051A>T
ENST00000683288.1:c.*1979A>T ENSP00000507477.1:n.*1979A>T
ENST00000683748.1:c.2007A>T ENSP00000507377.1:p.Thr669=
ENST00000683905.1:c.*656A>T ENSP00000506960.1:n.*656A>T
ENST00000684139.1:c.1515A>T ENSP00000507295.1:p.Thr505=
ENST00000684210.1:n.1693A>T
ENST00000684314.1:c.1875A>T ENSP00000507700.1:p.Thr625=
ENST00000684331.1:c.1980A>T ENSP00000507431.1:p.Thr660=
ENST00000684463.1:n.618A>T
ENST00000684646.1:c.1767A>T ENSP00000507723.1:p.Thr589=
ENST00000309971.9:c.1980A>T MANE Select ENSP00000308622.5:p.Thr660=
ENST00000309971.8:c.1980A>T ENSP00000308622.4:p.Thr660=
NM_001003722.1:c.1980A>T , LRG_484t1:c.1980A>T NP_001003722.1:p.Thr660=
XM_006717059.2:c.2016A>T XP_006717122.1:p.Thr672=
XM_006717060.2:c.1989A>T XP_006717123.1:p.Thr663=
XM_011518549.1:c.2016A>T XP_011516851.1:p.Thr672=
XM_011518550.1:c.2016A>T XP_011516852.1:p.Thr672=
XM_011518551.1:c.2007A>T XP_011516853.1:p.Thr669=
XM_011518552.1:c.1257A>T XP_011516854.1:p.Thr419=
XR_242681.3:n.100+3089T>A
XR_428600.2:n.124+680T>A
XM_006717059.3:c.2016A>T XP_006717122.1:p.Thr672=
XM_006717060.3:c.1989A>T XP_006717123.1:p.Thr663=
XM_011518551.2:c.2007A>T XP_011516853.1:p.Thr669=
XM_024447519.1:c.1989A>T XP_024303287.1:p.Thr663=
XR_428600.3:n.126+680T>A
NM_001003722.2:c.1980A>T MANE Select NP_001003722.1:p.Thr660=