Canonical Allele Identifier: CA375046239

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302592T>A (hg19) ; chr9:g.128540313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540313T>A , CM000671.2:g.128540313T>A	GRCh38
NC_000009.11:g.131302592T>A , CM000671.1:g.131302592T>A	GRCh37
NC_000009.10:g.130342413T>A	NCBI36
NG_012073.1:g.40622T>A , LRG_484:g.40622T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1074T>A	ENSP00000507095.1:n.*1074T>A
ENST00000683288.1:c.*2002T>A	ENSP00000507477.1:n.*2002T>A
ENST00000683748.1:c.2030T>A	ENSP00000507377.1:p.Phe677Tyr
ENST00000683905.1:c.*679T>A	ENSP00000506960.1:n.*679T>A
ENST00000684139.1:c.1538T>A	ENSP00000507295.1:p.Phe513Tyr
ENST00000684210.1:n.1716T>A
ENST00000684314.1:c.1898T>A	ENSP00000507700.1:p.Phe633Tyr
ENST00000684331.1:c.2003T>A	ENSP00000507431.1:p.Phe668Tyr
ENST00000684463.1:n.641T>A
ENST00000684646.1:c.1790T>A	ENSP00000507723.1:p.Phe597Tyr
ENST00000309971.9:c.2003T>A MANE Select	ENSP00000308622.5:p.Phe668Tyr
ENST00000309971.8:c.2003T>A	ENSP00000308622.4:p.Phe668Tyr
NM_001003722.1:c.2003T>A , LRG_484t1:c.2003T>A	NP_001003722.1:p.Phe668Tyr
XM_006717059.2:c.2039T>A	XP_006717122.1:p.Phe680Tyr
XM_006717060.2:c.2012T>A	XP_006717123.1:p.Phe671Tyr
XM_011518549.1:c.2039T>A	XP_011516851.1:p.Phe680Tyr
XM_011518550.1:c.2039T>A	XP_011516852.1:p.Phe680Tyr
XM_011518551.1:c.2030T>A	XP_011516853.1:p.Phe677Tyr
XM_011518552.1:c.1280T>A	XP_011516854.1:p.Phe427Tyr
XR_242681.3:n.100+3066A>T
XR_428600.2:n.124+657A>T
XM_006717059.3:c.2039T>A	XP_006717122.1:p.Phe680Tyr
XM_006717060.3:c.2012T>A	XP_006717123.1:p.Phe671Tyr
XM_011518551.2:c.2030T>A	XP_011516853.1:p.Phe677Tyr
XM_024447519.1:c.2012T>A	XP_024303287.1:p.Phe671Tyr
XR_428600.3:n.126+657A>T
NM_001003722.2:c.2003T>A MANE Select	NP_001003722.1:p.Phe668Tyr