Canonical Allele Identifier: CA200374881
Community Standard Title: NM_001003722.2(GLE1):c.432+236C>T
Gene: GLE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128515875C>T , CM000671.2:g.128515875C>T GRCh38
NC_000009.11:g.131278154C>T , CM000671.1:g.131278154C>T GRCh37
NC_000009.10:g.130317975C>T NCBI36
NG_012073.1:g.16184C>T , LRG_484:g.16184C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001003722.2:c.432+236C>T MANE Select NP_001003722.1:n.432+236C>T
ENST00000309971.9:c.432+236C>T MANE Select ENSP00000308622.5:n.432+236C>T
NM_001003722.1:c.432+236C>T , LRG_484t1:c.432+236C>T NP_001003722.1:n.432+236C>T
NM_001499.2:c.432+236C>T , LRG_484t2:c.432+236C>T NP_001490.1:n.432+236C>T
ENST00000309971.8:c.432+236C>T ENSP00000308622.4:n.432+236C>T
ENST00000372770.4:c.432+236C>T ENSP00000361856.4:n.432+236C>T
ENST00000494417.2:n.536+236C>T
ENST00000682831.1:c.*185C>T ENSP00000508410.1:n.*185C>T
ENST00000683044.1:c.432+236C>T ENSP00000507095.1:n.432+236C>T
ENST00000683288.1:c.*431+236C>T ENSP00000507477.1:n.*431+236C>T
ENST00000683748.1:c.432+236C>T ENSP00000507377.1:n.432+236C>T
ENST00000683905.1:c.432+236C>T ENSP00000506960.1:n.432+236C>T
ENST00000684139.1:c.432+236C>T ENSP00000507295.1:n.432+236C>T
ENST00000684314.1:c.432+236C>T ENSP00000507700.1:n.432+236C>T
ENST00000684331.1:c.432+236C>T ENSP00000507431.1:n.432+236C>T
ENST00000684646.1:c.432+236C>T ENSP00000507723.1:n.432+236C>T
XM_006717059.2:c.441+236C>T XP_006717122.1:n.441+236C>T
XM_006717059.3:c.441+236C>T XP_006717122.1:n.441+236C>T
XM_006717060.2:c.441+236C>T XP_006717123.1:n.441+236C>T
XM_006717060.3:c.441+236C>T XP_006717123.1:n.441+236C>T
XM_011518549.1:c.441+236C>T XP_011516851.1:n.441+236C>T
XM_011518550.1:c.441+236C>T XP_011516852.1:n.441+236C>T
XM_011518551.1:c.432+236C>T XP_011516853.1:n.432+236C>T
XM_011518551.2:c.432+236C>T XP_011516853.1:n.432+236C>T
XM_011518552.1:c.-314+236C>T XP_011516854.1:n.-314+236C>T
XM_024447519.1:c.441+236C>T XP_024303287.1:n.441+236C>T