Canonical Allele Identifier: CA467287331
Gene: GLE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131302957T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540678T>A , CM000671.2:g.128540678T>A GRCh38
NC_000009.11:g.131302957T>A , CM000671.1:g.131302957T>A GRCh37
NC_000009.10:g.130342778T>A NCBI36
NG_012073.1:g.40987T>A , LRG_484:g.40987T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1099+340T>A ENSP00000507095.1:n.*1099+340T>A
ENST00000683288.1:c.*2027+340T>A ENSP00000507477.1:n.*2027+340T>A
ENST00000683748.1:c.2055+340T>A ENSP00000507377.1:n.2055+340T>A
ENST00000683905.1:c.*704+340T>A ENSP00000506960.1:n.*704+340T>A
ENST00000684139.1:c.1563+340T>A ENSP00000507295.1:n.1563+340T>A
ENST00000684210.1:n.1741+340T>A
ENST00000684314.1:c.1923+340T>A ENSP00000507700.1:n.1923+340T>A
ENST00000684331.1:c.*325T>A ENSP00000507431.1:n.*325T>A
ENST00000684463.1:n.666+340T>A
ENST00000684646.1:c.1815+340T>A ENSP00000507723.1:n.1815+340T>A
ENST00000309971.9:c.2028+340T>A MANE Select ENSP00000308622.5:n.2028+340T>A
ENST00000309971.8:c.2028+340T>A ENSP00000308622.4:n.2028+340T>A
NM_001003722.1:c.2028+340T>A , LRG_484t1:c.2028+340T>A NP_001003722.1:n.2028+340T>A
XM_006717059.2:c.2064+340T>A XP_006717122.1:n.2064+340T>A
XM_006717060.2:c.2037+340T>A XP_006717123.1:n.2037+340T>A
XM_011518549.1:c.2064+340T>A XP_011516851.1:n.2064+340T>A
XM_011518550.1:c.2064+340T>A XP_011516852.1:n.2064+340T>A
XM_011518551.1:c.2055+340T>A XP_011516853.1:n.2055+340T>A
XM_011518552.1:c.1305+340T>A XP_011516854.1:n.1305+340T>A
XR_242681.3:n.100+2701A>T
XR_428600.2:n.124+292A>T
XM_006717059.3:c.2064+340T>A XP_006717122.1:n.2064+340T>A
XM_006717060.3:c.2037+340T>A XP_006717123.1:n.2037+340T>A
XM_011518551.2:c.2055+340T>A XP_011516853.1:n.2055+340T>A
XM_024447519.1:c.2037+340T>A XP_024303287.1:n.2037+340T>A
XR_428600.3:n.126+292A>T
NM_001003722.2:c.2028+340T>A MANE Select NP_001003722.1:n.2028+340T>A