Canonical Allele Identifier: CA375046393

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541138-G-A
• MyVariant Identifiers: chr9:g.131303417G>A (hg19) ; chr9:g.128541138G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541138G>A , CM000671.2:g.128541138G>A	GRCh38
NC_000009.11:g.131303417G>A , CM000671.1:g.131303417G>A	GRCh37
NC_000009.10:g.130343238G>A	NCBI36
NG_012073.1:g.41447G>A , LRG_484:g.41447G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1136G>A	ENSP00000507095.1:n.*1136G>A
ENST00000683288.1:c.*2064G>A	ENSP00000507477.1:n.*2064G>A
ENST00000683748.1:c.2092G>A	ENSP00000507377.1:p.Gly698Ser
ENST00000683905.1:c.*741G>A	ENSP00000506960.1:n.*741G>A
ENST00000684139.1:c.1600G>A	ENSP00000507295.1:p.Gly534Ser
ENST00000684210.1:n.1778G>A
ENST00000684314.1:c.1960G>A	ENSP00000507700.1:p.Gly654Ser
ENST00000684331.1:c.*785G>A	ENSP00000507431.1:n.*785G>A
ENST00000684463.1:n.703G>A
ENST00000684646.1:c.1852G>A	ENSP00000507723.1:p.Gly618Ser
ENST00000309971.9:c.2065G>A MANE Select	ENSP00000308622.5:p.Gly689Ser
ENST00000309971.8:c.2065G>A	ENSP00000308622.4:p.Gly689Ser
NM_001003722.1:c.2065G>A , LRG_484t1:c.2065G>A	NP_001003722.1:p.Gly689Ser
XM_006717059.2:c.2101G>A	XP_006717122.1:p.Gly701Ser
XM_006717060.2:c.2074G>A	XP_006717123.1:p.Gly692Ser
XM_011518549.1:c.2101G>A	XP_011516851.1:p.Gly701Ser
XM_011518550.1:c.2101G>A	XP_011516852.1:p.Gly701Ser
XM_011518551.1:c.2092G>A	XP_011516853.1:p.Gly698Ser
XM_011518552.1:c.1342G>A	XP_011516854.1:p.Gly448Ser
XR_242681.3:n.100+2241C>T
XM_006717059.3:c.2101G>A	XP_006717122.1:p.Gly701Ser
XM_006717060.3:c.2074G>A	XP_006717123.1:p.Gly692Ser
XM_011518551.2:c.2092G>A	XP_011516853.1:p.Gly698Ser
XM_024447519.1:c.2074G>A	XP_024303287.1:p.Gly692Ser
NM_001003722.2:c.2065G>A MANE Select	NP_001003722.1:p.Gly689Ser