Canonical Allele Identifier: CA375046453

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541169-G-C
• MyVariant Identifiers: chr9:g.131303448G>C (hg19) ; chr9:g.128541169G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541169G>C , CM000671.2:g.128541169G>C	GRCh38
NC_000009.11:g.131303448G>C , CM000671.1:g.131303448G>C	GRCh37
NC_000009.10:g.130343269G>C	NCBI36
NG_012073.1:g.41478G>C , LRG_484:g.41478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1167G>C	ENSP00000507095.1:n.*1167G>C
ENST00000683288.1:c.*2095G>C	ENSP00000507477.1:n.*2095G>C
ENST00000683748.1:c.2123G>C	ENSP00000507377.1:p.Ter708Ser
ENST00000683905.1:c.*772G>C	ENSP00000506960.1:n.*772G>C
ENST00000684139.1:c.1631G>C	ENSP00000507295.1:p.Ter544Ser
ENST00000684210.1:n.1809G>C
ENST00000684314.1:c.1991G>C	ENSP00000507700.1:p.Ter664Ser
ENST00000684331.1:c.*816G>C	ENSP00000507431.1:n.*816G>C
ENST00000684463.1:n.734G>C
ENST00000684646.1:c.1883G>C	ENSP00000507723.1:p.Ter628Ser
ENST00000309971.9:c.2096G>C MANE Select	ENSP00000308622.5:p.Ter699Ser
ENST00000309971.8:c.2096G>C	ENSP00000308622.4:p.Ter699Ser
NM_001003722.1:c.2096G>C , LRG_484t1:c.2096G>C	NP_001003722.1:p.Ter699Ser
XM_006717059.2:c.2132G>C	XP_006717122.1:p.Ter711Ser
XM_006717060.2:c.2105G>C	XP_006717123.1:p.Ter702Ser
XM_011518549.1:c.2132G>C	XP_011516851.1:p.Ter711Ser
XM_011518550.1:c.2132G>C	XP_011516852.1:p.Ter711Ser
XM_011518551.1:c.2123G>C	XP_011516853.1:p.Ter708Ser
XM_011518552.1:c.1373G>C	XP_011516854.1:p.Ter458Ser
XR_242681.3:n.100+2210C>G
XM_006717059.3:c.2132G>C	XP_006717122.1:p.Ter711Ser
XM_006717060.3:c.2105G>C	XP_006717123.1:p.Ter702Ser
XM_011518551.2:c.2123G>C	XP_011516853.1:p.Ter708Ser
XM_024447519.1:c.2105G>C	XP_024303287.1:p.Ter702Ser
NM_001003722.2:c.2096G>C MANE Select	NP_001003722.1:p.Ter699Ser