Canonical Allele Identifier: CA5264019

Gene: GLE1

Linked Data

• dbSNP Id: rs751979858
• ExAC: 9:131302514 A / C
• gnomAD v2: 9-131302514-A-C
• gnomAD v4: 9-128540235-A-C
• MyVariant Identifiers: chr9:g.131302514A>C (hg19) ; chr9:g.128540235A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540235A>C , CM000671.2:g.128540235A>C	GRCh38
NC_000009.11:g.131302514A>C , CM000671.1:g.131302514A>C	GRCh37
NC_000009.10:g.130342335A>C	NCBI36
NG_012073.1:g.40544A>C , LRG_484:g.40544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1036-40A>C	ENSP00000507095.1:n.*1036-40A>C
ENST00000683288.1:c.*1964-40A>C	ENSP00000507477.1:n.*1964-40A>C
ENST00000683748.1:c.1992-40A>C	ENSP00000507377.1:n.1992-40A>C
ENST00000683905.1:c.*641-40A>C	ENSP00000506960.1:n.*641-40A>C
ENST00000684139.1:c.1500-40A>C	ENSP00000507295.1:n.1500-40A>C
ENST00000684210.1:n.1678-40A>C
ENST00000684314.1:c.1860-40A>C	ENSP00000507700.1:n.1860-40A>C
ENST00000684331.1:c.1965-40A>C	ENSP00000507431.1:n.1965-40A>C
ENST00000684463.1:n.603-40A>C
ENST00000684646.1:c.1752-40A>C	ENSP00000507723.1:n.1752-40A>C
ENST00000309971.9:c.1965-40A>C MANE Select	ENSP00000308622.5:n.1965-40A>C
ENST00000309971.8:c.1965-40A>C	ENSP00000308622.4:n.1965-40A>C
NM_001003722.1:c.1965-40A>C , LRG_484t1:c.1965-40A>C	NP_001003722.1:n.1965-40A>C
XM_006717059.2:c.2001-40A>C	XP_006717122.1:n.2001-40A>C
XM_006717060.2:c.1974-40A>C	XP_006717123.1:n.1974-40A>C
XM_011518549.1:c.2001-40A>C	XP_011516851.1:n.2001-40A>C
XM_011518550.1:c.2001-40A>C	XP_011516852.1:n.2001-40A>C
XM_011518551.1:c.1992-40A>C	XP_011516853.1:n.1992-40A>C
XM_011518552.1:c.1242-40A>C	XP_011516854.1:n.1242-40A>C
XR_242681.3:n.100+3144T>G
XR_428600.2:n.124+735T>G
XM_006717059.3:c.2001-40A>C	XP_006717122.1:n.2001-40A>C
XM_006717060.3:c.1974-40A>C	XP_006717123.1:n.1974-40A>C
XM_011518551.2:c.1992-40A>C	XP_011516853.1:n.1992-40A>C
XM_024447519.1:c.1974-40A>C	XP_024303287.1:n.1974-40A>C
XR_428600.3:n.126+735T>G
NM_001003722.2:c.1965-40A>C MANE Select	NP_001003722.1:n.1965-40A>C