Canonical Allele Identifier: CA10626494

Gene: GLE1

Linked Data

• ClinVar Variation Id: 365146
• ClinVar RCV Id: RCV000330659 ; RCV000387550
• dbSNP Id: rs537244282
• gnomAD v2: 9-131304382-A-C
• gnomAD v3: 9-128542103-A-C
• gnomAD v4: 9-128542103-A-C
• MyVariant Identifiers: chr9:g.131304382A>C (hg19) ; chr9:g.128542103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128542103A>C , CM000671.2:g.128542103A>C	GRCh38
NC_000009.11:g.131304382A>C , CM000671.1:g.131304382A>C	GRCh37
NC_000009.10:g.130344203A>C	NCBI36
NG_012073.1:g.42412A>C , LRG_484:g.42412A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*2101A>C	ENSP00000507095.1:n.*2101A>C
ENST00000683288.1:c.*3029A>C	ENSP00000507477.1:n.*3029A>C
ENST00000683748.1:c.*933A>C	ENSP00000507377.1:n.*933A>C
ENST00000683905.1:c.*1706A>C	ENSP00000506960.1:n.*1706A>C
ENST00000684139.1:c.*933A>C	ENSP00000507295.1:n.*933A>C
ENST00000684210.1:n.2743A>C
ENST00000684314.1:c.*933A>C	ENSP00000507700.1:n.*933A>C
ENST00000684331.1:c.*1750A>C	ENSP00000507431.1:n.*1750A>C
ENST00000684463.1:n.1668A>C
ENST00000684646.1:c.*933A>C	ENSP00000507723.1:n.*933A>C
ENST00000309971.9:c.*933A>C MANE Select	ENSP00000308622.5:n.*933A>C
ENST00000309971.8:c.*933A>C	ENSP00000308622.4:n.*933A>C
NM_001003722.1:c.*933A>C , LRG_484t1:c.*933A>C	NP_001003722.1:n.*933A>C
XM_006717059.2:c.*933A>C	XP_006717122.1:n.*933A>C
XM_006717060.2:c.*933A>C	XP_006717123.1:n.*933A>C
XM_011518549.1:c.*933A>C	XP_011516851.1:n.*933A>C
XM_011518550.1:c.*933A>C	XP_011516852.1:n.*933A>C
XM_011518551.1:c.*933A>C	XP_011516853.1:n.*933A>C
XM_011518552.1:c.*933A>C	XP_011516854.1:n.*933A>C
XR_242681.3:n.100+1276T>G
XM_006717059.3:c.*933A>C	XP_006717122.1:n.*933A>C
XM_006717060.3:c.*933A>C	XP_006717123.1:n.*933A>C
XM_011518551.2:c.*933A>C	XP_011516853.1:n.*933A>C
XM_024447519.1:c.*933A>C	XP_024303287.1:n.*933A>C
NM_001003722.2:c.*933A>C MANE Select	NP_001003722.1:n.*933A>C