Canonical Allele Identifier: CA375046214

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302581G>C (hg19) ; chr9:g.128540302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540302G>C , CM000671.2:g.128540302G>C	GRCh38
NC_000009.11:g.131302581G>C , CM000671.1:g.131302581G>C	GRCh37
NC_000009.10:g.130342402G>C	NCBI36
NG_012073.1:g.40611G>C , LRG_484:g.40611G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1063G>C	ENSP00000507095.1:n.*1063G>C
ENST00000683288.1:c.*1991G>C	ENSP00000507477.1:n.*1991G>C
ENST00000683748.1:c.2019G>C	ENSP00000507377.1:p.Gln673His
ENST00000683905.1:c.*668G>C	ENSP00000506960.1:n.*668G>C
ENST00000684139.1:c.1527G>C	ENSP00000507295.1:p.Gln509His
ENST00000684210.1:n.1705G>C
ENST00000684314.1:c.1887G>C	ENSP00000507700.1:p.Gln629His
ENST00000684331.1:c.1992G>C	ENSP00000507431.1:p.Gln664His
ENST00000684463.1:n.630G>C
ENST00000684646.1:c.1779G>C	ENSP00000507723.1:p.Gln593His
ENST00000309971.9:c.1992G>C MANE Select	ENSP00000308622.5:p.Gln664His
ENST00000309971.8:c.1992G>C	ENSP00000308622.4:p.Gln664His
NM_001003722.1:c.1992G>C , LRG_484t1:c.1992G>C	NP_001003722.1:p.Gln664His
XM_006717059.2:c.2028G>C	XP_006717122.1:p.Gln676His
XM_006717060.2:c.2001G>C	XP_006717123.1:p.Gln667His
XM_011518549.1:c.2028G>C	XP_011516851.1:p.Gln676His
XM_011518550.1:c.2028G>C	XP_011516852.1:p.Gln676His
XM_011518551.1:c.2019G>C	XP_011516853.1:p.Gln673His
XM_011518552.1:c.1269G>C	XP_011516854.1:p.Gln423His
XR_242681.3:n.100+3077C>G
XR_428600.2:n.124+668C>G
XM_006717059.3:c.2028G>C	XP_006717122.1:p.Gln676His
XM_006717060.3:c.2001G>C	XP_006717123.1:p.Gln667His
XM_011518551.2:c.2019G>C	XP_011516853.1:p.Gln673His
XM_024447519.1:c.2001G>C	XP_024303287.1:p.Gln667His
XR_428600.3:n.126+668C>G
NM_001003722.2:c.1992G>C MANE Select	NP_001003722.1:p.Gln664His