Canonical Allele Identifier: CA200395962

Gene: GLE1

Linked Data

• dbSNP Id: rs1031688762
• gnomAD v3: 9-128542107-C-G
• gnomAD v4: 9-128542107-C-G
• MyVariant Identifiers: chr9:g.131304386C>G (hg19) ; chr9:g.128542107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128542107C>G , CM000671.2:g.128542107C>G	GRCh38
NC_000009.11:g.131304386C>G , CM000671.1:g.131304386C>G	GRCh37
NC_000009.10:g.130344207C>G	NCBI36
NG_012073.1:g.42416C>G , LRG_484:g.42416C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*2105C>G	ENSP00000507095.1:n.*2105C>G
ENST00000683288.1:c.*3033C>G	ENSP00000507477.1:n.*3033C>G
ENST00000683748.1:c.*937C>G	ENSP00000507377.1:n.*937C>G
ENST00000683905.1:c.*1710C>G	ENSP00000506960.1:n.*1710C>G
ENST00000684139.1:c.*937C>G	ENSP00000507295.1:n.*937C>G
ENST00000684210.1:n.2747C>G
ENST00000684314.1:c.*937C>G	ENSP00000507700.1:n.*937C>G
ENST00000684331.1:c.*1754C>G	ENSP00000507431.1:n.*1754C>G
ENST00000684463.1:n.1672C>G
ENST00000684646.1:c.*937C>G	ENSP00000507723.1:n.*937C>G
ENST00000309971.9:c.*937C>G MANE Select	ENSP00000308622.5:n.*937C>G
ENST00000309971.8:c.*937C>G	ENSP00000308622.4:n.*937C>G
NM_001003722.1:c.*937C>G , LRG_484t1:c.*937C>G	NP_001003722.1:n.*937C>G
XM_006717059.2:c.*937C>G	XP_006717122.1:n.*937C>G
XM_006717060.2:c.*937C>G	XP_006717123.1:n.*937C>G
XM_011518549.1:c.*937C>G	XP_011516851.1:n.*937C>G
XM_011518550.1:c.*937C>G	XP_011516852.1:n.*937C>G
XM_011518551.1:c.*937C>G	XP_011516853.1:n.*937C>G
XM_011518552.1:c.*937C>G	XP_011516854.1:n.*937C>G
XR_242681.3:n.100+1272G>C
XM_006717059.3:c.*937C>G	XP_006717122.1:n.*937C>G
XM_006717060.3:c.*937C>G	XP_006717123.1:n.*937C>G
XM_011518551.2:c.*937C>G	XP_011516853.1:n.*937C>G
XM_024447519.1:c.*937C>G	XP_024303287.1:n.*937C>G
NM_001003722.2:c.*937C>G MANE Select	NP_001003722.1:n.*937C>G