Canonical Allele Identifier: CA375046341

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541114-C-T
• MyVariant Identifiers: chr9:g.131303393C>T (hg19) ; chr9:g.128541114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541114C>T , CM000671.2:g.128541114C>T	GRCh38
NC_000009.11:g.131303393C>T , CM000671.1:g.131303393C>T	GRCh37
NC_000009.10:g.130343214C>T	NCBI36
NG_012073.1:g.41423C>T , LRG_484:g.41423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1112C>T	ENSP00000507095.1:n.*1112C>T
ENST00000683288.1:c.*2040C>T	ENSP00000507477.1:n.*2040C>T
ENST00000683748.1:c.2068C>T	ENSP00000507377.1:p.His690Tyr
ENST00000683905.1:c.*717C>T	ENSP00000506960.1:n.*717C>T
ENST00000684139.1:c.1576C>T	ENSP00000507295.1:p.His526Tyr
ENST00000684210.1:n.1754C>T
ENST00000684314.1:c.1936C>T	ENSP00000507700.1:p.His646Tyr
ENST00000684331.1:c.*761C>T	ENSP00000507431.1:n.*761C>T
ENST00000684463.1:n.679C>T
ENST00000684646.1:c.1828C>T	ENSP00000507723.1:p.His610Tyr
ENST00000309971.9:c.2041C>T MANE Select	ENSP00000308622.5:p.His681Tyr
ENST00000309971.8:c.2041C>T	ENSP00000308622.4:p.His681Tyr
NM_001003722.1:c.2041C>T , LRG_484t1:c.2041C>T	NP_001003722.1:p.His681Tyr
XM_006717059.2:c.2077C>T	XP_006717122.1:p.His693Tyr
XM_006717060.2:c.2050C>T	XP_006717123.1:p.His684Tyr
XM_011518549.1:c.2077C>T	XP_011516851.1:p.His693Tyr
XM_011518550.1:c.2077C>T	XP_011516852.1:p.His693Tyr
XM_011518551.1:c.2068C>T	XP_011516853.1:p.His690Tyr
XM_011518552.1:c.1318C>T	XP_011516854.1:p.His440Tyr
XR_242681.3:n.100+2265G>A
XM_006717059.3:c.2077C>T	XP_006717122.1:p.His693Tyr
XM_006717060.3:c.2050C>T	XP_006717123.1:p.His684Tyr
XM_011518551.2:c.2068C>T	XP_011516853.1:p.His690Tyr
XM_024447519.1:c.2050C>T	XP_024303287.1:p.His684Tyr
NM_001003722.2:c.2041C>T MANE Select	NP_001003722.1:p.His681Tyr