Canonical Allele Identifier: CA375046296

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540338-G-C
• MyVariant Identifiers: chr9:g.131302617G>C (hg19) ; chr9:g.128540338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540338G>C , CM000671.2:g.128540338G>C	GRCh38
NC_000009.11:g.131302617G>C , CM000671.1:g.131302617G>C	GRCh37
NC_000009.10:g.130342438G>C	NCBI36
NG_012073.1:g.40647G>C , LRG_484:g.40647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1099G>C	ENSP00000507095.1:n.*1099G>C
ENST00000683288.1:c.*2027G>C	ENSP00000507477.1:n.*2027G>C
ENST00000683748.1:c.2055G>C	ENSP00000507377.1:p.Glu685Asp
ENST00000683905.1:c.*704G>C	ENSP00000506960.1:n.*704G>C
ENST00000684139.1:c.1563G>C	ENSP00000507295.1:p.Glu521Asp
ENST00000684210.1:n.1741G>C
ENST00000684314.1:c.1923G>C	ENSP00000507700.1:p.Glu641Asp
ENST00000684331.1:c.2028G>C	ENSP00000507431.1:p.Glu676Asp
ENST00000684463.1:n.666G>C
ENST00000684646.1:c.1815G>C	ENSP00000507723.1:p.Glu605Asp
ENST00000309971.9:c.2028G>C MANE Select	ENSP00000308622.5:p.Glu676Asp
ENST00000309971.8:c.2028G>C	ENSP00000308622.4:p.Glu676Asp
NM_001003722.1:c.2028G>C , LRG_484t1:c.2028G>C	NP_001003722.1:p.Glu676Asp
XM_006717059.2:c.2064G>C	XP_006717122.1:p.Glu688Asp
XM_006717060.2:c.2037G>C	XP_006717123.1:p.Glu679Asp
XM_011518549.1:c.2064G>C	XP_011516851.1:p.Glu688Asp
XM_011518550.1:c.2064G>C	XP_011516852.1:p.Glu688Asp
XM_011518551.1:c.2055G>C	XP_011516853.1:p.Glu685Asp
XM_011518552.1:c.1305G>C	XP_011516854.1:p.Glu435Asp
XR_242681.3:n.100+3041C>G
XR_428600.2:n.124+632C>G
XM_006717059.3:c.2064G>C	XP_006717122.1:p.Glu688Asp
XM_006717060.3:c.2037G>C	XP_006717123.1:p.Glu679Asp
XM_011518551.2:c.2055G>C	XP_011516853.1:p.Glu685Asp
XM_024447519.1:c.2037G>C	XP_024303287.1:p.Glu679Asp
XR_428600.3:n.126+632C>G
NM_001003722.2:c.2028G>C MANE Select	NP_001003722.1:p.Glu676Asp