Canonical Allele Identifier: CA10632748

Gene: GLE1

Linked Data

• ClinVar Variation Id: 365147
• ClinVar RCV Id: RCV000295363 ; RCV000352854
• dbSNP Id: rs4466499
• gnomAD v2: 9-131304454-T-C
• gnomAD v3: 9-128542175-T-C
• gnomAD v4: 9-128542175-T-C
• MyVariant Identifiers: chr9:g.131304454T>C (hg19) ; chr9:g.128542175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128542175T>C , CM000671.2:g.128542175T>C	GRCh38
NC_000009.11:g.131304454T>C , CM000671.1:g.131304454T>C	GRCh37
NC_000009.10:g.130344275T>C	NCBI36
NG_012073.1:g.42484T>C , LRG_484:g.42484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*2173T>C	ENSP00000507095.1:n.*2173T>C
ENST00000683288.1:c.*3101T>C	ENSP00000507477.1:n.*3101T>C
ENST00000683748.1:c.*1005T>C	ENSP00000507377.1:n.*1005T>C
ENST00000683905.1:c.*1778T>C	ENSP00000506960.1:n.*1778T>C
ENST00000684139.1:c.*1005T>C	ENSP00000507295.1:n.*1005T>C
ENST00000684210.1:n.2815T>C
ENST00000684314.1:c.*1005T>C	ENSP00000507700.1:n.*1005T>C
ENST00000684463.1:n.1740T>C
ENST00000684646.1:c.*1005T>C	ENSP00000507723.1:n.*1005T>C
ENST00000309971.9:c.*1005T>C MANE Select	ENSP00000308622.5:n.*1005T>C
ENST00000309971.8:c.*1005T>C	ENSP00000308622.4:n.*1005T>C
NM_001003722.1:c.*1005T>C , LRG_484t1:c.*1005T>C	NP_001003722.1:n.*1005T>C
XM_006717059.2:c.*1005T>C	XP_006717122.1:n.*1005T>C
XM_006717060.2:c.*1005T>C	XP_006717123.1:n.*1005T>C
XM_011518549.1:c.*1005T>C	XP_011516851.1:n.*1005T>C
XM_011518550.1:c.*1005T>C	XP_011516852.1:n.*1005T>C
XM_011518551.1:c.*1005T>C	XP_011516853.1:n.*1005T>C
XM_011518552.1:c.*1005T>C	XP_011516854.1:n.*1005T>C
XR_242681.3:n.100+1204A>G
XM_006717059.3:c.*1005T>C	XP_006717122.1:n.*1005T>C
XM_006717060.3:c.*1005T>C	XP_006717123.1:n.*1005T>C
XM_011518551.2:c.*1005T>C	XP_011516853.1:n.*1005T>C
XM_024447519.1:c.*1005T>C	XP_024303287.1:n.*1005T>C
NM_001003722.2:c.*1005T>C MANE Select	NP_001003722.1:n.*1005T>C