Canonical Allele Identifier: CA2691926250

Gene: GLE1

Linked Data

• gnomAD v4: 9-128542143-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128542143T>C , CM000671.2:g.128542143T>C	GRCh38
NC_000009.11:g.131304422T>C , CM000671.1:g.131304422T>C	GRCh37
NC_000009.10:g.130344243T>C	NCBI36
NG_012073.1:g.42452T>C , LRG_484:g.42452T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*2141T>C	ENSP00000507095.1:n.*2141T>C
ENST00000683288.1:c.*3069T>C	ENSP00000507477.1:n.*3069T>C
ENST00000683748.1:c.*973T>C	ENSP00000507377.1:n.*973T>C
ENST00000683905.1:c.*1746T>C	ENSP00000506960.1:n.*1746T>C
ENST00000684139.1:c.*973T>C	ENSP00000507295.1:n.*973T>C
ENST00000684210.1:n.2783T>C
ENST00000684314.1:c.*973T>C	ENSP00000507700.1:n.*973T>C
ENST00000684463.1:n.1708T>C
ENST00000684646.1:c.*973T>C	ENSP00000507723.1:n.*973T>C
ENST00000309971.9:c.*973T>C MANE Select	ENSP00000308622.5:n.*973T>C
ENST00000309971.8:c.*973T>C	ENSP00000308622.4:n.*973T>C
NM_001003722.1:c.*973T>C , LRG_484t1:c.*973T>C	NP_001003722.1:n.*973T>C
XM_006717059.2:c.*973T>C	XP_006717122.1:n.*973T>C
XM_006717060.2:c.*973T>C	XP_006717123.1:n.*973T>C
XM_011518549.1:c.*973T>C	XP_011516851.1:n.*973T>C
XM_011518550.1:c.*973T>C	XP_011516852.1:n.*973T>C
XM_011518551.1:c.*973T>C	XP_011516853.1:n.*973T>C
XM_011518552.1:c.*973T>C	XP_011516854.1:n.*973T>C
XR_242681.3:n.100+1236A>G
XM_006717059.3:c.*973T>C	XP_006717122.1:n.*973T>C
XM_006717060.3:c.*973T>C	XP_006717123.1:n.*973T>C
XM_011518551.2:c.*973T>C	XP_011516853.1:n.*973T>C
XM_024447519.1:c.*973T>C	XP_024303287.1:n.*973T>C
NM_001003722.2:c.*973T>C MANE Select	NP_001003722.1:n.*973T>C