Canonical Allele Identifier: CA375046417

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541151-C-G
• MyVariant Identifiers: chr9:g.131303430C>G (hg19) ; chr9:g.128541151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541151C>G , CM000671.2:g.128541151C>G	GRCh38
NC_000009.11:g.131303430C>G , CM000671.1:g.131303430C>G	GRCh37
NC_000009.10:g.130343251C>G	NCBI36
NG_012073.1:g.41460C>G , LRG_484:g.41460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1149C>G	ENSP00000507095.1:n.*1149C>G
ENST00000683288.1:c.*2077C>G	ENSP00000507477.1:n.*2077C>G
ENST00000683748.1:c.2105C>G	ENSP00000507377.1:p.Ser702Cys
ENST00000683905.1:c.*754C>G	ENSP00000506960.1:n.*754C>G
ENST00000684139.1:c.1613C>G	ENSP00000507295.1:p.Ser538Cys
ENST00000684210.1:n.1791C>G
ENST00000684314.1:c.1973C>G	ENSP00000507700.1:p.Ser658Cys
ENST00000684331.1:c.*798C>G	ENSP00000507431.1:n.*798C>G
ENST00000684463.1:n.716C>G
ENST00000684646.1:c.1865C>G	ENSP00000507723.1:p.Ser622Cys
ENST00000309971.9:c.2078C>G MANE Select	ENSP00000308622.5:p.Ser693Cys
ENST00000309971.8:c.2078C>G	ENSP00000308622.4:p.Ser693Cys
NM_001003722.1:c.2078C>G , LRG_484t1:c.2078C>G	NP_001003722.1:p.Ser693Cys
XM_006717059.2:c.2114C>G	XP_006717122.1:p.Ser705Cys
XM_006717060.2:c.2087C>G	XP_006717123.1:p.Ser696Cys
XM_011518549.1:c.2114C>G	XP_011516851.1:p.Ser705Cys
XM_011518550.1:c.2114C>G	XP_011516852.1:p.Ser705Cys
XM_011518551.1:c.2105C>G	XP_011516853.1:p.Ser702Cys
XM_011518552.1:c.1355C>G	XP_011516854.1:p.Ser452Cys
XR_242681.3:n.100+2228G>C
XM_006717059.3:c.2114C>G	XP_006717122.1:p.Ser705Cys
XM_006717060.3:c.2087C>G	XP_006717123.1:p.Ser696Cys
XM_011518551.2:c.2105C>G	XP_011516853.1:p.Ser702Cys
XM_024447519.1:c.2087C>G	XP_024303287.1:p.Ser696Cys
NM_001003722.2:c.2078C>G MANE Select	NP_001003722.1:p.Ser693Cys