Canonical Allele Identifier: CA375046442

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541162-C-A
• MyVariant Identifiers: chr9:g.131303441C>A (hg19) ; chr9:g.128541162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541162C>A , CM000671.2:g.128541162C>A	GRCh38
NC_000009.11:g.131303441C>A , CM000671.1:g.131303441C>A	GRCh37
NC_000009.10:g.130343262C>A	NCBI36
NG_012073.1:g.41471C>A , LRG_484:g.41471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1160C>A	ENSP00000507095.1:n.*1160C>A
ENST00000683288.1:c.*2088C>A	ENSP00000507477.1:n.*2088C>A
ENST00000683748.1:c.2116C>A	ENSP00000507377.1:p.Arg706Ser
ENST00000683905.1:c.*765C>A	ENSP00000506960.1:n.*765C>A
ENST00000684139.1:c.1624C>A	ENSP00000507295.1:p.Arg542Ser
ENST00000684210.1:n.1802C>A
ENST00000684314.1:c.1984C>A	ENSP00000507700.1:p.Arg662Ser
ENST00000684331.1:c.*809C>A	ENSP00000507431.1:n.*809C>A
ENST00000684463.1:n.727C>A
ENST00000684646.1:c.1876C>A	ENSP00000507723.1:p.Arg626Ser
ENST00000309971.9:c.2089C>A MANE Select	ENSP00000308622.5:p.Arg697Ser
ENST00000309971.8:c.2089C>A	ENSP00000308622.4:p.Arg697Ser
NM_001003722.1:c.2089C>A , LRG_484t1:c.2089C>A	NP_001003722.1:p.Arg697Ser
XM_006717059.2:c.2125C>A	XP_006717122.1:p.Arg709Ser
XM_006717060.2:c.2098C>A	XP_006717123.1:p.Arg700Ser
XM_011518549.1:c.2125C>A	XP_011516851.1:p.Arg709Ser
XM_011518550.1:c.2125C>A	XP_011516852.1:p.Arg709Ser
XM_011518551.1:c.2116C>A	XP_011516853.1:p.Arg706Ser
XM_011518552.1:c.1366C>A	XP_011516854.1:p.Arg456Ser
XR_242681.3:n.100+2217G>T
XM_006717059.3:c.2125C>A	XP_006717122.1:p.Arg709Ser
XM_006717060.3:c.2098C>A	XP_006717123.1:p.Arg700Ser
XM_011518551.2:c.2116C>A	XP_011516853.1:p.Arg706Ser
XM_024447519.1:c.2098C>A	XP_024303287.1:p.Arg700Ser
NM_001003722.2:c.2089C>A MANE Select	NP_001003722.1:p.Arg697Ser