Canonical Allele Identifier: CA370052603

Gene: RHEB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151490948T>A , CM000669.2:g.151490948T>A	GRCh38
NC_000007.13:g.151188034T>A , CM000669.1:g.151188034T>A	GRCh37
NC_000007.12:g.150818967T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005614.4:c.119A>T MANE Select	NP_005605.1:p.Glu40Val
ENST00000262187.10:c.119A>T MANE Select	ENSP00000262187.5:p.Glu40Val
NM_005614.3:c.119A>T	NP_005605.1:p.Glu40Val
ENST00000262187.9:c.119A>T	ENSP00000262187.5:p.Glu40Val
ENST00000470370.1:c.-197A>T	ENSP00000417212.1:n.-197A>T
ENST00000472642.5:c.-197A>T	ENSP00000420726.1:n.-197A>T
ENST00000478470.5:c.*67A>T	ENSP00000417802.1:n.*67A>T
ENST00000496004.5:c.-197A>T	ENSP00000418161.1:n.-197A>T
XM_011516457.1:c.86A>T	XP_011514759.1:p.Glu29Val
XM_011516457.2:c.86A>T	XP_011514759.1:p.Glu29Val
XM_024446854.1:c.86A>T	XP_024302622.1:p.Glu29Val