Canonical Allele Identifier: CA467286725
Gene: GLE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131302590C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128540311C>G , CM000671.2:g.128540311C>G GRCh38
NC_000009.11:g.131302590C>G , CM000671.1:g.131302590C>G GRCh37
NC_000009.10:g.130342411C>G NCBI36
NG_012073.1:g.40620C>G , LRG_484:g.40620C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683044.1:c.*1072C>G ENSP00000507095.1:n.*1072C>G
ENST00000683288.1:c.*2000C>G ENSP00000507477.1:n.*2000C>G
ENST00000683748.1:c.2028C>G ENSP00000507377.1:p.Ser676=
ENST00000683905.1:c.*677C>G ENSP00000506960.1:n.*677C>G
ENST00000684139.1:c.1536C>G ENSP00000507295.1:p.Ser512=
ENST00000684210.1:n.1714C>G
ENST00000684314.1:c.1896C>G ENSP00000507700.1:p.Ser632=
ENST00000684331.1:c.2001C>G ENSP00000507431.1:p.Ser667=
ENST00000684463.1:n.639C>G
ENST00000684646.1:c.1788C>G ENSP00000507723.1:p.Ser596=
ENST00000309971.9:c.2001C>G MANE Select ENSP00000308622.5:p.Ser667=
ENST00000309971.8:c.2001C>G ENSP00000308622.4:p.Ser667=
NM_001003722.1:c.2001C>G , LRG_484t1:c.2001C>G NP_001003722.1:p.Ser667=
XM_006717059.2:c.2037C>G XP_006717122.1:p.Ser679=
XM_006717060.2:c.2010C>G XP_006717123.1:p.Ser670=
XM_011518549.1:c.2037C>G XP_011516851.1:p.Ser679=
XM_011518550.1:c.2037C>G XP_011516852.1:p.Ser679=
XM_011518551.1:c.2028C>G XP_011516853.1:p.Ser676=
XM_011518552.1:c.1278C>G XP_011516854.1:p.Ser426=
XR_242681.3:n.100+3068G>C
XR_428600.2:n.124+659G>C
XM_006717059.3:c.2037C>G XP_006717122.1:p.Ser679=
XM_006717060.3:c.2010C>G XP_006717123.1:p.Ser670=
XM_011518551.2:c.2028C>G XP_011516853.1:p.Ser676=
XM_024447519.1:c.2010C>G XP_024303287.1:p.Ser670=
XR_428600.3:n.126+659G>C
NM_001003722.2:c.2001C>G MANE Select NP_001003722.1:p.Ser667=