Canonical Allele Identifier: CA375046229

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540307-G-C
• MyVariant Identifiers: chr9:g.131302586G>C (hg19) ; chr9:g.128540307G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540307G>C , CM000671.2:g.128540307G>C	GRCh38
NC_000009.11:g.131302586G>C , CM000671.1:g.131302586G>C	GRCh37
NC_000009.10:g.130342407G>C	NCBI36
NG_012073.1:g.40616G>C , LRG_484:g.40616G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1068G>C	ENSP00000507095.1:n.*1068G>C
ENST00000683288.1:c.*1996G>C	ENSP00000507477.1:n.*1996G>C
ENST00000683748.1:c.2024G>C	ENSP00000507377.1:p.Gly675Ala
ENST00000683905.1:c.*673G>C	ENSP00000506960.1:n.*673G>C
ENST00000684139.1:c.1532G>C	ENSP00000507295.1:p.Gly511Ala
ENST00000684210.1:n.1710G>C
ENST00000684314.1:c.1892G>C	ENSP00000507700.1:p.Gly631Ala
ENST00000684331.1:c.1997G>C	ENSP00000507431.1:p.Gly666Ala
ENST00000684463.1:n.635G>C
ENST00000684646.1:c.1784G>C	ENSP00000507723.1:p.Gly595Ala
ENST00000309971.9:c.1997G>C MANE Select	ENSP00000308622.5:p.Gly666Ala
ENST00000309971.8:c.1997G>C	ENSP00000308622.4:p.Gly666Ala
NM_001003722.1:c.1997G>C , LRG_484t1:c.1997G>C	NP_001003722.1:p.Gly666Ala
XM_006717059.2:c.2033G>C	XP_006717122.1:p.Gly678Ala
XM_006717060.2:c.2006G>C	XP_006717123.1:p.Gly669Ala
XM_011518549.1:c.2033G>C	XP_011516851.1:p.Gly678Ala
XM_011518550.1:c.2033G>C	XP_011516852.1:p.Gly678Ala
XM_011518551.1:c.2024G>C	XP_011516853.1:p.Gly675Ala
XM_011518552.1:c.1274G>C	XP_011516854.1:p.Gly425Ala
XR_242681.3:n.100+3072C>G
XR_428600.2:n.124+663C>G
XM_006717059.3:c.2033G>C	XP_006717122.1:p.Gly678Ala
XM_006717060.3:c.2006G>C	XP_006717123.1:p.Gly669Ala
XM_011518551.2:c.2024G>C	XP_011516853.1:p.Gly675Ala
XM_024447519.1:c.2006G>C	XP_024303287.1:p.Gly669Ala
XR_428600.3:n.126+663C>G
NM_001003722.2:c.1997G>C MANE Select	NP_001003722.1:p.Gly666Ala