Canonical Allele Identifier: CA10629086

Gene: GLE1

Linked Data

• ClinVar Variation Id: 365135
• ClinVar RCV Id: RCV000285660 ; RCV000377752
• dbSNP Id: rs886063490
• gnomAD v4: 9-128540353-G-A
• MyVariant Identifiers: chr9:g.131302632G>A (hg19) ; chr9:g.128540353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540353G>A , CM000671.2:g.128540353G>A	GRCh38
NC_000009.11:g.131302632G>A , CM000671.1:g.131302632G>A	GRCh37
NC_000009.10:g.130342453G>A	NCBI36
NG_012073.1:g.40662G>A , LRG_484:g.40662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1099+15G>A	ENSP00000507095.1:n.*1099+15G>A
ENST00000683288.1:c.*2027+15G>A	ENSP00000507477.1:n.*2027+15G>A
ENST00000683748.1:c.2055+15G>A	ENSP00000507377.1:n.2055+15G>A
ENST00000683905.1:c.*704+15G>A	ENSP00000506960.1:n.*704+15G>A
ENST00000684139.1:c.1563+15G>A	ENSP00000507295.1:n.1563+15G>A
ENST00000684210.1:n.1741+15G>A
ENST00000684314.1:c.1923+15G>A	ENSP00000507700.1:n.1923+15G>A
ENST00000684331.1:c.2043G>A	ENSP00000507431.1:p.Ter681=
ENST00000684463.1:n.666+15G>A
ENST00000684646.1:c.1815+15G>A	ENSP00000507723.1:n.1815+15G>A
ENST00000309971.9:c.2028+15G>A MANE Select	ENSP00000308622.5:n.2028+15G>A
ENST00000309971.8:c.2028+15G>A	ENSP00000308622.4:n.2028+15G>A
NM_001003722.1:c.2028+15G>A , LRG_484t1:c.2028+15G>A	NP_001003722.1:n.2028+15G>A
XM_006717059.2:c.2064+15G>A	XP_006717122.1:n.2064+15G>A
XM_006717060.2:c.2037+15G>A	XP_006717123.1:n.2037+15G>A
XM_011518549.1:c.2064+15G>A	XP_011516851.1:n.2064+15G>A
XM_011518550.1:c.2064+15G>A	XP_011516852.1:n.2064+15G>A
XM_011518551.1:c.2055+15G>A	XP_011516853.1:n.2055+15G>A
XM_011518552.1:c.1305+15G>A	XP_011516854.1:n.1305+15G>A
XR_242681.3:n.100+3026C>T
XR_428600.2:n.124+617C>T
XM_006717059.3:c.2064+15G>A	XP_006717122.1:n.2064+15G>A
XM_006717060.3:c.2037+15G>A	XP_006717123.1:n.2037+15G>A
XM_011518551.2:c.2055+15G>A	XP_011516853.1:n.2055+15G>A
XM_024447519.1:c.2037+15G>A	XP_024303287.1:n.2037+15G>A
XR_428600.3:n.126+617C>T
NM_001003722.2:c.2028+15G>A MANE Select	NP_001003722.1:n.2028+15G>A