Canonical Allele Identifier: CA467288820

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541107-T-C
• MyVariant Identifiers: chr9:g.131303386T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541107T>C , CM000671.2:g.128541107T>C	GRCh38
NC_000009.11:g.131303386T>C , CM000671.1:g.131303386T>C	GRCh37
NC_000009.10:g.130343207T>C	NCBI36
NG_012073.1:g.41416T>C , LRG_484:g.41416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1105T>C	ENSP00000507095.1:n.*1105T>C
ENST00000683288.1:c.*2033T>C	ENSP00000507477.1:n.*2033T>C
ENST00000683748.1:c.2061T>C	ENSP00000507377.1:p.Cys687=
ENST00000683905.1:c.*710T>C	ENSP00000506960.1:n.*710T>C
ENST00000684139.1:c.1569T>C	ENSP00000507295.1:p.Cys523=
ENST00000684210.1:n.1747T>C
ENST00000684314.1:c.1929T>C	ENSP00000507700.1:p.Cys643=
ENST00000684331.1:c.*754T>C	ENSP00000507431.1:n.*754T>C
ENST00000684463.1:n.672T>C
ENST00000684646.1:c.1821T>C	ENSP00000507723.1:p.Cys607=
ENST00000309971.9:c.2034T>C MANE Select	ENSP00000308622.5:p.Cys678=
ENST00000309971.8:c.2034T>C	ENSP00000308622.4:p.Cys678=
NM_001003722.1:c.2034T>C , LRG_484t1:c.2034T>C	NP_001003722.1:p.Cys678=
XM_006717059.2:c.2070T>C	XP_006717122.1:p.Cys690=
XM_006717060.2:c.2043T>C	XP_006717123.1:p.Cys681=
XM_011518549.1:c.2070T>C	XP_011516851.1:p.Cys690=
XM_011518550.1:c.2070T>C	XP_011516852.1:p.Cys690=
XM_011518551.1:c.2061T>C	XP_011516853.1:p.Cys687=
XM_011518552.1:c.1311T>C	XP_011516854.1:p.Cys437=
XR_242681.3:n.100+2272A>G
XM_006717059.3:c.2070T>C	XP_006717122.1:p.Cys690=
XM_006717060.3:c.2043T>C	XP_006717123.1:p.Cys681=
XM_011518551.2:c.2061T>C	XP_011516853.1:p.Cys687=
XM_024447519.1:c.2043T>C	XP_024303287.1:p.Cys681=
NM_001003722.2:c.2034T>C MANE Select	NP_001003722.1:p.Cys678=