Canonical Allele Identifier: CA375046399

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541142-T-C
• MyVariant Identifiers: chr9:g.131303421T>C (hg19) ; chr9:g.128541142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541142T>C , CM000671.2:g.128541142T>C	GRCh38
NC_000009.11:g.131303421T>C , CM000671.1:g.131303421T>C	GRCh37
NC_000009.10:g.130343242T>C	NCBI36
NG_012073.1:g.41451T>C , LRG_484:g.41451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1140T>C	ENSP00000507095.1:n.*1140T>C
ENST00000683288.1:c.*2068T>C	ENSP00000507477.1:n.*2068T>C
ENST00000683748.1:c.2096T>C	ENSP00000507377.1:p.Phe699Ser
ENST00000683905.1:c.*745T>C	ENSP00000506960.1:n.*745T>C
ENST00000684139.1:c.1604T>C	ENSP00000507295.1:p.Phe535Ser
ENST00000684210.1:n.1782T>C
ENST00000684314.1:c.1964T>C	ENSP00000507700.1:p.Phe655Ser
ENST00000684331.1:c.*789T>C	ENSP00000507431.1:n.*789T>C
ENST00000684463.1:n.707T>C
ENST00000684646.1:c.1856T>C	ENSP00000507723.1:p.Phe619Ser
ENST00000309971.9:c.2069T>C MANE Select	ENSP00000308622.5:p.Phe690Ser
ENST00000309971.8:c.2069T>C	ENSP00000308622.4:p.Phe690Ser
NM_001003722.1:c.2069T>C , LRG_484t1:c.2069T>C	NP_001003722.1:p.Phe690Ser
XM_006717059.2:c.2105T>C	XP_006717122.1:p.Phe702Ser
XM_006717060.2:c.2078T>C	XP_006717123.1:p.Phe693Ser
XM_011518549.1:c.2105T>C	XP_011516851.1:p.Phe702Ser
XM_011518550.1:c.2105T>C	XP_011516852.1:p.Phe702Ser
XM_011518551.1:c.2096T>C	XP_011516853.1:p.Phe699Ser
XM_011518552.1:c.1346T>C	XP_011516854.1:p.Phe449Ser
XR_242681.3:n.100+2237A>G
XM_006717059.3:c.2105T>C	XP_006717122.1:p.Phe702Ser
XM_006717060.3:c.2078T>C	XP_006717123.1:p.Phe693Ser
XM_011518551.2:c.2096T>C	XP_011516853.1:p.Phe699Ser
XM_024447519.1:c.2078T>C	XP_024303287.1:p.Phe693Ser
NM_001003722.2:c.2069T>C MANE Select	NP_001003722.1:p.Phe690Ser