Canonical Allele Identifier: CA375046173

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540293-C-A
• MyVariant Identifiers: chr9:g.131302572C>A (hg19) ; chr9:g.128540293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540293C>A , CM000671.2:g.128540293C>A	GRCh38
NC_000009.11:g.131302572C>A , CM000671.1:g.131302572C>A	GRCh37
NC_000009.10:g.130342393C>A	NCBI36
NG_012073.1:g.40602C>A , LRG_484:g.40602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1054C>A	ENSP00000507095.1:n.*1054C>A
ENST00000683288.1:c.*1982C>A	ENSP00000507477.1:n.*1982C>A
ENST00000683748.1:c.2010C>A	ENSP00000507377.1:p.Ser670Arg
ENST00000683905.1:c.*659C>A	ENSP00000506960.1:n.*659C>A
ENST00000684139.1:c.1518C>A	ENSP00000507295.1:p.Ser506Arg
ENST00000684210.1:n.1696C>A
ENST00000684314.1:c.1878C>A	ENSP00000507700.1:p.Ser626Arg
ENST00000684331.1:c.1983C>A	ENSP00000507431.1:p.Ser661Arg
ENST00000684463.1:n.621C>A
ENST00000684646.1:c.1770C>A	ENSP00000507723.1:p.Ser590Arg
ENST00000309971.9:c.1983C>A MANE Select	ENSP00000308622.5:p.Ser661Arg
ENST00000309971.8:c.1983C>A	ENSP00000308622.4:p.Ser661Arg
NM_001003722.1:c.1983C>A , LRG_484t1:c.1983C>A	NP_001003722.1:p.Ser661Arg
XM_006717059.2:c.2019C>A	XP_006717122.1:p.Ser673Arg
XM_006717060.2:c.1992C>A	XP_006717123.1:p.Ser664Arg
XM_011518549.1:c.2019C>A	XP_011516851.1:p.Ser673Arg
XM_011518550.1:c.2019C>A	XP_011516852.1:p.Ser673Arg
XM_011518551.1:c.2010C>A	XP_011516853.1:p.Ser670Arg
XM_011518552.1:c.1260C>A	XP_011516854.1:p.Ser420Arg
XR_242681.3:n.100+3086G>T
XR_428600.2:n.124+677G>T
XM_006717059.3:c.2019C>A	XP_006717122.1:p.Ser673Arg
XM_006717060.3:c.1992C>A	XP_006717123.1:p.Ser664Arg
XM_011518551.2:c.2010C>A	XP_011516853.1:p.Ser670Arg
XM_024447519.1:c.1992C>A	XP_024303287.1:p.Ser664Arg
XR_428600.3:n.126+677G>T
NM_001003722.2:c.1983C>A MANE Select	NP_001003722.1:p.Ser661Arg