Canonical Allele Identifier: CA375046127

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540283-C-A
• MyVariant Identifiers: chr9:g.131302562C>A (hg19) ; chr9:g.128540283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540283C>A , CM000671.2:g.128540283C>A	GRCh38
NC_000009.11:g.131302562C>A , CM000671.1:g.131302562C>A	GRCh37
NC_000009.10:g.130342383C>A	NCBI36
NG_012073.1:g.40592C>A , LRG_484:g.40592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1044C>A	ENSP00000507095.1:n.*1044C>A
ENST00000683288.1:c.*1972C>A	ENSP00000507477.1:n.*1972C>A
ENST00000683748.1:c.2000C>A	ENSP00000507377.1:p.Ala667Asp
ENST00000683905.1:c.*649C>A	ENSP00000506960.1:n.*649C>A
ENST00000684139.1:c.1508C>A	ENSP00000507295.1:p.Ala503Asp
ENST00000684210.1:n.1686C>A
ENST00000684314.1:c.1868C>A	ENSP00000507700.1:p.Ala623Asp
ENST00000684331.1:c.1973C>A	ENSP00000507431.1:p.Ala658Asp
ENST00000684463.1:n.611C>A
ENST00000684646.1:c.1760C>A	ENSP00000507723.1:p.Ala587Asp
ENST00000309971.9:c.1973C>A MANE Select	ENSP00000308622.5:p.Ala658Asp
ENST00000309971.8:c.1973C>A	ENSP00000308622.4:p.Ala658Asp
NM_001003722.1:c.1973C>A , LRG_484t1:c.1973C>A	NP_001003722.1:p.Ala658Asp
XM_006717059.2:c.2009C>A	XP_006717122.1:p.Ala670Asp
XM_006717060.2:c.1982C>A	XP_006717123.1:p.Ala661Asp
XM_011518549.1:c.2009C>A	XP_011516851.1:p.Ala670Asp
XM_011518550.1:c.2009C>A	XP_011516852.1:p.Ala670Asp
XM_011518551.1:c.2000C>A	XP_011516853.1:p.Ala667Asp
XM_011518552.1:c.1250C>A	XP_011516854.1:p.Ala417Asp
XR_242681.3:n.100+3096G>T
XR_428600.2:n.124+687G>T
XM_006717059.3:c.2009C>A	XP_006717122.1:p.Ala670Asp
XM_006717060.3:c.1982C>A	XP_006717123.1:p.Ala661Asp
XM_011518551.2:c.2000C>A	XP_011516853.1:p.Ala667Asp
XM_024447519.1:c.1982C>A	XP_024303287.1:p.Ala661Asp
XR_428600.3:n.126+687G>T
NM_001003722.2:c.1973C>A MANE Select	NP_001003722.1:p.Ala658Asp