Canonical Allele Identifier: CA10632450

Gene: GLE1

Linked Data

• ClinVar Variation Id: 365128
• ClinVar RCV Id: RCV000261038 ; RCV000297930
• dbSNP Id: rs56214514
• gnomAD v2: 9-131267004-C-T
• gnomAD v3: 9-128504725-C-T
• gnomAD v4: 9-128504725-C-T
• MyVariant Identifiers: chr9:g.131267004C>T (hg19) ; chr9:g.128504725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128504725C>T , CM000671.2:g.128504725C>T	GRCh38
NC_000009.11:g.131267004C>T , CM000671.1:g.131267004C>T	GRCh37
NC_000009.10:g.130306825C>T	NCBI36
NG_012073.1:g.5034C>T , LRG_484:g.5034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494417.2:n.24C>T
ENST00000683044.1:c.-81C>T	ENSP00000507095.1:n.-81C>T
ENST00000683748.1:c.-81C>T	ENSP00000507377.1:n.-81C>T
ENST00000683905.1:c.-81C>T	ENSP00000506960.1:n.-81C>T
ENST00000684314.1:c.-81C>T	ENSP00000507700.1:n.-81C>T
ENST00000684331.1:c.-81C>T	ENSP00000507431.1:n.-81C>T
ENST00000684646.1:c.-81C>T	ENSP00000507723.1:n.-81C>T
ENST00000309971.9:c.-81C>T MANE Select	ENSP00000308622.5:n.-81C>T
ENST00000309971.8:c.-81C>T	ENSP00000308622.4:n.-81C>T
NM_001003722.1:c.-81C>T , LRG_484t1:c.-81C>T	NP_001003722.1:n.-81C>T
NM_001499.2:c.-81C>T , LRG_484t2:c.-81C>T	NP_001490.1:n.-81C>T
XM_006717059.2:c.-197C>T	XP_006717122.1:n.-197C>T
XM_006717060.2:c.-197C>T	XP_006717123.1:n.-197C>T
XM_011518551.1:c.-81C>T	XP_011516853.1:n.-81C>T
XM_006717059.3:c.-197C>T	XP_006717122.1:n.-197C>T
XM_006717060.3:c.-197C>T	XP_006717123.1:n.-197C>T
XM_011518551.2:c.-81C>T	XP_011516853.1:n.-81C>T
NM_001003722.2:c.-81C>T MANE Select	NP_001003722.1:n.-81C>T