Canonical Allele Identifier: CA375046318
Gene: GLE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128541105T>G , CM000671.2:g.128541105T>G GRCh38
NC_000009.11:g.131303384T>G , CM000671.1:g.131303384T>G GRCh37
NC_000009.10:g.130343205T>G NCBI36
NG_012073.1:g.41414T>G , LRG_484:g.41414T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1103T>G ENSP00000507095.1:n.*1103T>G
ENST00000683288.1:c.*2031T>G ENSP00000507477.1:n.*2031T>G
ENST00000683748.1:c.2059T>G ENSP00000507377.1:p.Cys687Gly
ENST00000683905.1:c.*708T>G ENSP00000506960.1:n.*708T>G
ENST00000684139.1:c.1567T>G ENSP00000507295.1:p.Cys523Gly
ENST00000684210.1:n.1745T>G
ENST00000684314.1:c.1927T>G ENSP00000507700.1:p.Cys643Gly
ENST00000684331.1:c.*752T>G ENSP00000507431.1:n.*752T>G
ENST00000684463.1:n.670T>G
ENST00000684646.1:c.1819T>G ENSP00000507723.1:p.Cys607Gly
ENST00000309971.9:c.2032T>G MANE Select ENSP00000308622.5:p.Cys678Gly
ENST00000309971.8:c.2032T>G ENSP00000308622.4:p.Cys678Gly
NM_001003722.1:c.2032T>G , LRG_484t1:c.2032T>G NP_001003722.1:p.Cys678Gly
XM_006717059.2:c.2068T>G XP_006717122.1:p.Cys690Gly
XM_006717060.2:c.2041T>G XP_006717123.1:p.Cys681Gly
XM_011518549.1:c.2068T>G XP_011516851.1:p.Cys690Gly
XM_011518550.1:c.2068T>G XP_011516852.1:p.Cys690Gly
XM_011518551.1:c.2059T>G XP_011516853.1:p.Cys687Gly
XM_011518552.1:c.1309T>G XP_011516854.1:p.Cys437Gly
XR_242681.3:n.100+2274A>C
XM_006717059.3:c.2068T>G XP_006717122.1:p.Cys690Gly
XM_006717060.3:c.2041T>G XP_006717123.1:p.Cys681Gly
XM_011518551.2:c.2059T>G XP_011516853.1:p.Cys687Gly
XM_024447519.1:c.2041T>G XP_024303287.1:p.Cys681Gly
NM_001003722.2:c.2032T>G MANE Select NP_001003722.1:p.Cys678Gly