Canonical Allele Identifier: CA467286704
Gene: GLE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131302563T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540284T>A , CM000671.2:g.128540284T>A GRCh38
NC_000009.11:g.131302563T>A , CM000671.1:g.131302563T>A GRCh37
NC_000009.10:g.130342384T>A NCBI36
NG_012073.1:g.40593T>A , LRG_484:g.40593T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1045T>A ENSP00000507095.1:n.*1045T>A
ENST00000683288.1:c.*1973T>A ENSP00000507477.1:n.*1973T>A
ENST00000683748.1:c.2001T>A ENSP00000507377.1:p.Ala667=
ENST00000683905.1:c.*650T>A ENSP00000506960.1:n.*650T>A
ENST00000684139.1:c.1509T>A ENSP00000507295.1:p.Ala503=
ENST00000684210.1:n.1687T>A
ENST00000684314.1:c.1869T>A ENSP00000507700.1:p.Ala623=
ENST00000684331.1:c.1974T>A ENSP00000507431.1:p.Ala658=
ENST00000684463.1:n.612T>A
ENST00000684646.1:c.1761T>A ENSP00000507723.1:p.Ala587=
ENST00000309971.9:c.1974T>A MANE Select ENSP00000308622.5:p.Ala658=
ENST00000309971.8:c.1974T>A ENSP00000308622.4:p.Ala658=
NM_001003722.1:c.1974T>A , LRG_484t1:c.1974T>A NP_001003722.1:p.Ala658=
XM_006717059.2:c.2010T>A XP_006717122.1:p.Ala670=
XM_006717060.2:c.1983T>A XP_006717123.1:p.Ala661=
XM_011518549.1:c.2010T>A XP_011516851.1:p.Ala670=
XM_011518550.1:c.2010T>A XP_011516852.1:p.Ala670=
XM_011518551.1:c.2001T>A XP_011516853.1:p.Ala667=
XM_011518552.1:c.1251T>A XP_011516854.1:p.Ala417=
XR_242681.3:n.100+3095A>T
XR_428600.2:n.124+686A>T
XM_006717059.3:c.2010T>A XP_006717122.1:p.Ala670=
XM_006717060.3:c.1983T>A XP_006717123.1:p.Ala661=
XM_011518551.2:c.2001T>A XP_011516853.1:p.Ala667=
XM_024447519.1:c.1983T>A XP_024303287.1:p.Ala661=
XR_428600.3:n.126+686A>T
NM_001003722.2:c.1974T>A MANE Select NP_001003722.1:p.Ala658=