Canonical Allele Identifier: CA5264064

Gene: GLE1

Linked Data

• dbSNP Id: rs140144870
• ExAC: 9:131303415 A / G
• gnomAD v2: 9-131303415-A-G
• gnomAD v3: 9-128541136-A-G
• gnomAD v4: 9-128541136-A-G
• MyVariant Identifiers: chr9:g.131303415A>G (hg19) ; chr9:g.128541136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541136A>G , CM000671.2:g.128541136A>G	GRCh38
NC_000009.11:g.131303415A>G , CM000671.1:g.131303415A>G	GRCh37
NC_000009.10:g.130343236A>G	NCBI36
NG_012073.1:g.41445A>G , LRG_484:g.41445A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1134A>G	ENSP00000507095.1:n.*1134A>G
ENST00000683288.1:c.*2062A>G	ENSP00000507477.1:n.*2062A>G
ENST00000683748.1:c.2090A>G	ENSP00000507377.1:p.Lys697Arg
ENST00000683905.1:c.*739A>G	ENSP00000506960.1:n.*739A>G
ENST00000684139.1:c.1598A>G	ENSP00000507295.1:p.Lys533Arg
ENST00000684210.1:n.1776A>G
ENST00000684314.1:c.1958A>G	ENSP00000507700.1:p.Lys653Arg
ENST00000684331.1:c.*783A>G	ENSP00000507431.1:n.*783A>G
ENST00000684463.1:n.701A>G
ENST00000684646.1:c.1850A>G	ENSP00000507723.1:p.Lys617Arg
ENST00000309971.9:c.2063A>G MANE Select	ENSP00000308622.5:p.Lys688Arg
ENST00000309971.8:c.2063A>G	ENSP00000308622.4:p.Lys688Arg
NM_001003722.1:c.2063A>G , LRG_484t1:c.2063A>G	NP_001003722.1:p.Lys688Arg
XM_006717059.2:c.2099A>G	XP_006717122.1:p.Lys700Arg
XM_006717060.2:c.2072A>G	XP_006717123.1:p.Lys691Arg
XM_011518549.1:c.2099A>G	XP_011516851.1:p.Lys700Arg
XM_011518550.1:c.2099A>G	XP_011516852.1:p.Lys700Arg
XM_011518551.1:c.2090A>G	XP_011516853.1:p.Lys697Arg
XM_011518552.1:c.1340A>G	XP_011516854.1:p.Lys447Arg
XR_242681.3:n.100+2243T>C
XM_006717059.3:c.2099A>G	XP_006717122.1:p.Lys700Arg
XM_006717060.3:c.2072A>G	XP_006717123.1:p.Lys691Arg
XM_011518551.2:c.2090A>G	XP_011516853.1:p.Lys697Arg
XM_024447519.1:c.2072A>G	XP_024303287.1:p.Lys691Arg
NM_001003722.2:c.2063A>G MANE Select	NP_001003722.1:p.Lys688Arg