Canonical Allele Identifier: CA375046279

Gene: GLE1

Linked Data

• dbSNP Id: rs1847849459
• MyVariant Identifiers: chr9:g.131302610T>C (hg19) ; chr9:g.128540331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540331T>C , CM000671.2:g.128540331T>C	GRCh38
NC_000009.11:g.131302610T>C , CM000671.1:g.131302610T>C	GRCh37
NC_000009.10:g.130342431T>C	NCBI36
NG_012073.1:g.40640T>C , LRG_484:g.40640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1092T>C	ENSP00000507095.1:n.*1092T>C
ENST00000683288.1:c.*2020T>C	ENSP00000507477.1:n.*2020T>C
ENST00000683748.1:c.2048T>C	ENSP00000507377.1:p.Phe683Ser
ENST00000683905.1:c.*697T>C	ENSP00000506960.1:n.*697T>C
ENST00000684139.1:c.1556T>C	ENSP00000507295.1:p.Phe519Ser
ENST00000684210.1:n.1734T>C
ENST00000684314.1:c.1916T>C	ENSP00000507700.1:p.Phe639Ser
ENST00000684331.1:c.2021T>C	ENSP00000507431.1:p.Phe674Ser
ENST00000684463.1:n.659T>C
ENST00000684646.1:c.1808T>C	ENSP00000507723.1:p.Phe603Ser
ENST00000309971.9:c.2021T>C MANE Select	ENSP00000308622.5:p.Phe674Ser
ENST00000309971.8:c.2021T>C	ENSP00000308622.4:p.Phe674Ser
NM_001003722.1:c.2021T>C , LRG_484t1:c.2021T>C	NP_001003722.1:p.Phe674Ser
XM_006717059.2:c.2057T>C	XP_006717122.1:p.Phe686Ser
XM_006717060.2:c.2030T>C	XP_006717123.1:p.Phe677Ser
XM_011518549.1:c.2057T>C	XP_011516851.1:p.Phe686Ser
XM_011518550.1:c.2057T>C	XP_011516852.1:p.Phe686Ser
XM_011518551.1:c.2048T>C	XP_011516853.1:p.Phe683Ser
XM_011518552.1:c.1298T>C	XP_011516854.1:p.Phe433Ser
XR_242681.3:n.100+3048A>G
XR_428600.2:n.124+639A>G
XM_006717059.3:c.2057T>C	XP_006717122.1:p.Phe686Ser
XM_006717060.3:c.2030T>C	XP_006717123.1:p.Phe677Ser
XM_011518551.2:c.2048T>C	XP_011516853.1:p.Phe683Ser
XM_024447519.1:c.2030T>C	XP_024303287.1:p.Phe677Ser
XR_428600.3:n.126+639A>G
NM_001003722.2:c.2021T>C MANE Select	NP_001003722.1:p.Phe674Ser