Canonical Allele Identifier: CA1880333289
Gene: GLE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128541122C= , CM000671.2:g.128541122C= GRCh38
NC_000009.11:g.131303401C= , CM000671.1:g.131303401C= GRCh37
NC_000009.10:g.130343222C= NCBI36
NG_012073.1:g.41431C= , LRG_484:g.41431C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1120C= ENSP00000507095.1:n.*1120C=
ENST00000683288.1:c.*2048C= ENSP00000507477.1:n.*2048C=
ENST00000683748.1:c.2076C= ENSP00000507377.1:p.Asp692=
ENST00000683905.1:c.*725C= ENSP00000506960.1:n.*725C=
ENST00000684139.1:c.1584C= ENSP00000507295.1:p.Asp528=
ENST00000684210.1:n.1762C=
ENST00000684314.1:c.1944C= ENSP00000507700.1:p.Asp648=
ENST00000684331.1:c.*769C= ENSP00000507431.1:n.*769C=
ENST00000684463.1:n.687C=
ENST00000684646.1:c.1836C= ENSP00000507723.1:p.Asp612=
ENST00000309971.9:c.2049C= MANE Select ENSP00000308622.5:p.Asp683=
ENST00000309971.8:c.2049C= ENSP00000308622.4:p.Asp683=
NM_001003722.1:c.2049C= , LRG_484t1:c.2049C= NP_001003722.1:p.Asp683=
XM_006717059.2:c.2085C= XP_006717122.1:p.Asp695=
XM_006717060.2:c.2058C= XP_006717123.1:p.Asp686=
XM_011518549.1:c.2085C= XP_011516851.1:p.Asp695=
XM_011518550.1:c.2085C= XP_011516852.1:p.Asp695=
XM_011518551.1:c.2076C= XP_011516853.1:p.Asp692=
XM_011518552.1:c.1326C= XP_011516854.1:p.Asp442=
XR_242681.3:n.100+2257G=
XM_006717059.3:c.2085C= XP_006717122.1:p.Asp695=
XM_006717060.3:c.2058C= XP_006717123.1:p.Asp686=
XM_011518551.2:c.2076C= XP_011516853.1:p.Asp692=
XM_024447519.1:c.2058C= XP_024303287.1:p.Asp686=
NM_001003722.2:c.2049C= MANE Select NP_001003722.1:p.Asp683=