Canonical Allele Identifier: CA5263452

Gene: GLE1

Linked Data

• ClinVar Variation Id: 365131
• ClinVar RCV Id: RCV000291023 ; RCV000382871
• dbSNP Id: rs549769200
• ExAC: 9:131267138 C / G
• gnomAD v2: 9-131267138-C-G
• gnomAD v3: 9-128504859-C-G
• gnomAD v4: 9-128504859-C-G
• MyVariant Identifiers: chr9:g.131267138C>G (hg19) ; chr9:g.128504859C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128504859C>G , CM000671.2:g.128504859C>G	GRCh38
NC_000009.11:g.131267138C>G , CM000671.1:g.131267138C>G	GRCh37
NC_000009.10:g.130306959C>G	NCBI36
NG_012073.1:g.5168C>G , LRG_484:g.5168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494417.2:n.158C>G
ENST00000682831.1:c.54C>G	ENSP00000508410.1:p.Asp18Glu
ENST00000683044.1:c.54C>G	ENSP00000507095.1:p.Asp18Glu
ENST00000683288.1:c.54C>G	ENSP00000507477.1:p.Asp18Glu
ENST00000683748.1:c.54C>G	ENSP00000507377.1:p.Asp18Glu
ENST00000683905.1:c.54C>G	ENSP00000506960.1:p.Asp18Glu
ENST00000684139.1:c.54C>G	ENSP00000507295.1:p.Asp18Glu
ENST00000684314.1:c.54C>G	ENSP00000507700.1:p.Asp18Glu
ENST00000684331.1:c.54C>G	ENSP00000507431.1:p.Asp18Glu
ENST00000684646.1:c.54C>G	ENSP00000507723.1:p.Asp18Glu
ENST00000309971.9:c.54C>G MANE Select	ENSP00000308622.5:p.Asp18Glu
ENST00000309971.8:c.54C>G	ENSP00000308622.4:p.Asp18Glu
ENST00000372770.4:c.54C>G	ENSP00000361856.4:p.Asp18Glu
NM_001003722.1:c.54C>G , LRG_484t1:c.54C>G	NP_001003722.1:p.Asp18Glu
NM_001499.2:c.54C>G , LRG_484t2:c.54C>G	NP_001490.1:p.Asp18Glu
XM_006717059.2:c.-63C>G	XP_006717122.1:n.-63C>G
XM_006717060.2:c.-63C>G	XP_006717123.1:n.-63C>G
XM_011518551.1:c.54C>G	XP_011516853.1:p.Asp18Glu
XM_006717059.3:c.-63C>G	XP_006717122.1:n.-63C>G
XM_006717060.3:c.-63C>G	XP_006717123.1:n.-63C>G
XM_011518551.2:c.54C>G	XP_011516853.1:p.Asp18Glu
NM_001003722.2:c.54C>G MANE Select	NP_001003722.1:p.Asp18Glu