Canonical Allele Identifier: CA375046119

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302561G>T (hg19) ; chr9:g.128540282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540282G>T , CM000671.2:g.128540282G>T	GRCh38
NC_000009.11:g.131302561G>T , CM000671.1:g.131302561G>T	GRCh37
NC_000009.10:g.130342382G>T	NCBI36
NG_012073.1:g.40591G>T , LRG_484:g.40591G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1043G>T	ENSP00000507095.1:n.*1043G>T
ENST00000683288.1:c.*1971G>T	ENSP00000507477.1:n.*1971G>T
ENST00000683748.1:c.1999G>T	ENSP00000507377.1:p.Ala667Ser
ENST00000683905.1:c.*648G>T	ENSP00000506960.1:n.*648G>T
ENST00000684139.1:c.1507G>T	ENSP00000507295.1:p.Ala503Ser
ENST00000684210.1:n.1685G>T
ENST00000684314.1:c.1867G>T	ENSP00000507700.1:p.Ala623Ser
ENST00000684331.1:c.1972G>T	ENSP00000507431.1:p.Ala658Ser
ENST00000684463.1:n.610G>T
ENST00000684646.1:c.1759G>T	ENSP00000507723.1:p.Ala587Ser
ENST00000309971.9:c.1972G>T MANE Select	ENSP00000308622.5:p.Ala658Ser
ENST00000309971.8:c.1972G>T	ENSP00000308622.4:p.Ala658Ser
NM_001003722.1:c.1972G>T , LRG_484t1:c.1972G>T	NP_001003722.1:p.Ala658Ser
XM_006717059.2:c.2008G>T	XP_006717122.1:p.Ala670Ser
XM_006717060.2:c.1981G>T	XP_006717123.1:p.Ala661Ser
XM_011518549.1:c.2008G>T	XP_011516851.1:p.Ala670Ser
XM_011518550.1:c.2008G>T	XP_011516852.1:p.Ala670Ser
XM_011518551.1:c.1999G>T	XP_011516853.1:p.Ala667Ser
XM_011518552.1:c.1249G>T	XP_011516854.1:p.Ala417Ser
XR_242681.3:n.100+3097C>A
XR_428600.2:n.124+688C>A
XM_006717059.3:c.2008G>T	XP_006717122.1:p.Ala670Ser
XM_006717060.3:c.1981G>T	XP_006717123.1:p.Ala661Ser
XM_011518551.2:c.1999G>T	XP_011516853.1:p.Ala667Ser
XM_024447519.1:c.1981G>T	XP_024303287.1:p.Ala661Ser
XR_428600.3:n.126+688C>A
NM_001003722.2:c.1972G>T MANE Select	NP_001003722.1:p.Ala658Ser