Canonical Allele Identifier: CA467286720
Gene: GLE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131302578A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540299A>T , CM000671.2:g.128540299A>T GRCh38
NC_000009.11:g.131302578A>T , CM000671.1:g.131302578A>T GRCh37
NC_000009.10:g.130342399A>T NCBI36
NG_012073.1:g.40608A>T , LRG_484:g.40608A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1060A>T ENSP00000507095.1:n.*1060A>T
ENST00000683288.1:c.*1988A>T ENSP00000507477.1:n.*1988A>T
ENST00000683748.1:c.2016A>T ENSP00000507377.1:p.Gly672=
ENST00000683905.1:c.*665A>T ENSP00000506960.1:n.*665A>T
ENST00000684139.1:c.1524A>T ENSP00000507295.1:p.Gly508=
ENST00000684210.1:n.1702A>T
ENST00000684314.1:c.1884A>T ENSP00000507700.1:p.Gly628=
ENST00000684331.1:c.1989A>T ENSP00000507431.1:p.Gly663=
ENST00000684463.1:n.627A>T
ENST00000684646.1:c.1776A>T ENSP00000507723.1:p.Gly592=
ENST00000309971.9:c.1989A>T MANE Select ENSP00000308622.5:p.Gly663=
ENST00000309971.8:c.1989A>T ENSP00000308622.4:p.Gly663=
NM_001003722.1:c.1989A>T , LRG_484t1:c.1989A>T NP_001003722.1:p.Gly663=
XM_006717059.2:c.2025A>T XP_006717122.1:p.Gly675=
XM_006717060.2:c.1998A>T XP_006717123.1:p.Gly666=
XM_011518549.1:c.2025A>T XP_011516851.1:p.Gly675=
XM_011518550.1:c.2025A>T XP_011516852.1:p.Gly675=
XM_011518551.1:c.2016A>T XP_011516853.1:p.Gly672=
XM_011518552.1:c.1266A>T XP_011516854.1:p.Gly422=
XR_242681.3:n.100+3080T>A
XR_428600.2:n.124+671T>A
XM_006717059.3:c.2025A>T XP_006717122.1:p.Gly675=
XM_006717060.3:c.1998A>T XP_006717123.1:p.Gly666=
XM_011518551.2:c.2016A>T XP_011516853.1:p.Gly672=
XM_024447519.1:c.1998A>T XP_024303287.1:p.Gly666=
XR_428600.3:n.126+671T>A
NM_001003722.2:c.1989A>T MANE Select NP_001003722.1:p.Gly663=