Canonical Allele Identifier: CA1752687489

Gene: RHEB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151491003A= , CM000669.2:g.151491003A=	GRCh38
NC_000007.13:g.151188089A= , CM000669.1:g.151188089A=	GRCh37
NC_000007.12:g.150819022A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262187.10:c.64T= MANE Select	ENSP00000262187.5:p.Leu22=
ENST00000262187.9:c.64T=	ENSP00000262187.5:p.Leu22=
ENST00000470370.1:c.-252T=	ENSP00000417212.1:n.-252T=
ENST00000472642.5:c.-252T=	ENSP00000420726.1:n.-252T=
ENST00000478470.5:c.*12T=	ENSP00000417802.1:n.*12T=
ENST00000496004.5:c.-252T=	ENSP00000418161.1:n.-252T=
NM_005614.3:c.64T=	NP_005605.1:p.Leu22=
XM_011516457.1:c.31T=	XP_011514759.1:p.Leu11=
XM_011516457.2:c.31T=	XP_011514759.1:p.Leu11=
XM_024446854.1:c.31T=	XP_024302622.1:p.Leu11=
NM_005614.4:c.64T= MANE Select	NP_005605.1:p.Leu22=