Canonical Allele Identifier: CA375046455

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541170-A-C
• MyVariant Identifiers: chr9:g.131303449A>C (hg19) ; chr9:g.128541170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541170A>C , CM000671.2:g.128541170A>C	GRCh38
NC_000009.11:g.131303449A>C , CM000671.1:g.131303449A>C	GRCh37
NC_000009.10:g.130343270A>C	NCBI36
NG_012073.1:g.41479A>C , LRG_484:g.41479A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1168A>C	ENSP00000507095.1:n.*1168A>C
ENST00000683288.1:c.*2096A>C	ENSP00000507477.1:n.*2096A>C
ENST00000683748.1:c.2124A>C	ENSP00000507377.1:p.Ter708Cys
ENST00000683905.1:c.*773A>C	ENSP00000506960.1:n.*773A>C
ENST00000684139.1:c.1632A>C	ENSP00000507295.1:p.Ter544Cys
ENST00000684210.1:n.1810A>C
ENST00000684314.1:c.1992A>C	ENSP00000507700.1:p.Ter664Cys
ENST00000684331.1:c.*817A>C	ENSP00000507431.1:n.*817A>C
ENST00000684463.1:n.735A>C
ENST00000684646.1:c.1884A>C	ENSP00000507723.1:p.Ter628Cys
ENST00000309971.9:c.2097A>C MANE Select	ENSP00000308622.5:p.Ter699Cys
ENST00000309971.8:c.2097A>C	ENSP00000308622.4:p.Ter699Cys
NM_001003722.1:c.2097A>C , LRG_484t1:c.2097A>C	NP_001003722.1:p.Ter699Cys
XM_006717059.2:c.2133A>C	XP_006717122.1:p.Ter711Cys
XM_006717060.2:c.2106A>C	XP_006717123.1:p.Ter702Cys
XM_011518549.1:c.2133A>C	XP_011516851.1:p.Ter711Cys
XM_011518550.1:c.2133A>C	XP_011516852.1:p.Ter711Cys
XM_011518551.1:c.2124A>C	XP_011516853.1:p.Ter708Cys
XM_011518552.1:c.1374A>C	XP_011516854.1:p.Ter458Cys
XR_242681.3:n.100+2209T>G
XM_006717059.3:c.2133A>C	XP_006717122.1:p.Ter711Cys
XM_006717060.3:c.2106A>C	XP_006717123.1:p.Ter702Cys
XM_011518551.2:c.2124A>C	XP_011516853.1:p.Ter708Cys
XM_024447519.1:c.2106A>C	XP_024303287.1:p.Ter702Cys
NM_001003722.2:c.2097A>C MANE Select	NP_001003722.1:p.Ter699Cys