Canonical Allele Identifier: CA375046160
Gene: GLE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540291A>G , CM000671.2:g.128540291A>G GRCh38
NC_000009.11:g.131302570A>G , CM000671.1:g.131302570A>G GRCh37
NC_000009.10:g.130342391A>G NCBI36
NG_012073.1:g.40600A>G , LRG_484:g.40600A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1052A>G ENSP00000507095.1:n.*1052A>G
ENST00000683288.1:c.*1980A>G ENSP00000507477.1:n.*1980A>G
ENST00000683748.1:c.2008A>G ENSP00000507377.1:p.Ser670Gly
ENST00000683905.1:c.*657A>G ENSP00000506960.1:n.*657A>G
ENST00000684139.1:c.1516A>G ENSP00000507295.1:p.Ser506Gly
ENST00000684210.1:n.1694A>G
ENST00000684314.1:c.1876A>G ENSP00000507700.1:p.Ser626Gly
ENST00000684331.1:c.1981A>G ENSP00000507431.1:p.Ser661Gly
ENST00000684463.1:n.619A>G
ENST00000684646.1:c.1768A>G ENSP00000507723.1:p.Ser590Gly
ENST00000309971.9:c.1981A>G MANE Select ENSP00000308622.5:p.Ser661Gly
ENST00000309971.8:c.1981A>G ENSP00000308622.4:p.Ser661Gly
NM_001003722.1:c.1981A>G , LRG_484t1:c.1981A>G NP_001003722.1:p.Ser661Gly
XM_006717059.2:c.2017A>G XP_006717122.1:p.Ser673Gly
XM_006717060.2:c.1990A>G XP_006717123.1:p.Ser664Gly
XM_011518549.1:c.2017A>G XP_011516851.1:p.Ser673Gly
XM_011518550.1:c.2017A>G XP_011516852.1:p.Ser673Gly
XM_011518551.1:c.2008A>G XP_011516853.1:p.Ser670Gly
XM_011518552.1:c.1258A>G XP_011516854.1:p.Ser420Gly
XR_242681.3:n.100+3088T>C
XR_428600.2:n.124+679T>C
XM_006717059.3:c.2017A>G XP_006717122.1:p.Ser673Gly
XM_006717060.3:c.1990A>G XP_006717123.1:p.Ser664Gly
XM_011518551.2:c.2008A>G XP_011516853.1:p.Ser670Gly
XM_024447519.1:c.1990A>G XP_024303287.1:p.Ser664Gly
XR_428600.3:n.126+679T>C
NM_001003722.2:c.1981A>G MANE Select NP_001003722.1:p.Ser661Gly