Canonical Allele Identifier: CA375046094
Gene: GLE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540277T>A , CM000671.2:g.128540277T>A GRCh38
NC_000009.11:g.131302556T>A , CM000671.1:g.131302556T>A GRCh37
NC_000009.10:g.130342377T>A NCBI36
NG_012073.1:g.40586T>A , LRG_484:g.40586T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1038T>A ENSP00000507095.1:n.*1038T>A
ENST00000683288.1:c.*1966T>A ENSP00000507477.1:n.*1966T>A
ENST00000683748.1:c.1994T>A ENSP00000507377.1:p.Ile665Asn
ENST00000683905.1:c.*643T>A ENSP00000506960.1:n.*643T>A
ENST00000684139.1:c.1502T>A ENSP00000507295.1:p.Ile501Asn
ENST00000684210.1:n.1680T>A
ENST00000684314.1:c.1862T>A ENSP00000507700.1:p.Ile621Asn
ENST00000684331.1:c.1967T>A ENSP00000507431.1:p.Ile656Asn
ENST00000684463.1:n.605T>A
ENST00000684646.1:c.1754T>A ENSP00000507723.1:p.Ile585Asn
ENST00000309971.9:c.1967T>A MANE Select ENSP00000308622.5:p.Ile656Asn
ENST00000309971.8:c.1967T>A ENSP00000308622.4:p.Ile656Asn
NM_001003722.1:c.1967T>A , LRG_484t1:c.1967T>A NP_001003722.1:p.Ile656Asn
XM_006717059.2:c.2003T>A XP_006717122.1:p.Ile668Asn
XM_006717060.2:c.1976T>A XP_006717123.1:p.Ile659Asn
XM_011518549.1:c.2003T>A XP_011516851.1:p.Ile668Asn
XM_011518550.1:c.2003T>A XP_011516852.1:p.Ile668Asn
XM_011518551.1:c.1994T>A XP_011516853.1:p.Ile665Asn
XM_011518552.1:c.1244T>A XP_011516854.1:p.Ile415Asn
XR_242681.3:n.100+3102A>T
XR_428600.2:n.124+693A>T
XM_006717059.3:c.2003T>A XP_006717122.1:p.Ile668Asn
XM_006717060.3:c.1976T>A XP_006717123.1:p.Ile659Asn
XM_011518551.2:c.1994T>A XP_011516853.1:p.Ile665Asn
XM_024447519.1:c.1976T>A XP_024303287.1:p.Ile659Asn
XR_428600.3:n.126+693A>T
NM_001003722.2:c.1967T>A MANE Select NP_001003722.1:p.Ile656Asn