Canonical Allele Identifier: CA370052731

Gene: RHEB

Linked Data

• MyVariant Identifiers: chr7:g.151188089A>C (hg19) ; chr7:g.151491003A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262187.10:c.64T>G MANE Select	ENSP00000262187.5:p.Leu22Val
ENST00000262187.9:c.64T>G	ENSP00000262187.5:p.Leu22Val
ENST00000470370.1:c.-252T>G	ENSP00000417212.1:n.-252T>G
ENST00000472642.5:c.-252T>G	ENSP00000420726.1:n.-252T>G
ENST00000478470.5:c.*12T>G	ENSP00000417802.1:n.*12T>G
ENST00000496004.5:c.-252T>G	ENSP00000418161.1:n.-252T>G
NM_005614.3:c.64T>G	NP_005605.1:p.Leu22Val
XM_011516457.1:c.31T>G	XP_011514759.1:p.Leu11Val
XM_011516457.2:c.31T>G	XP_011514759.1:p.Leu11Val
XM_024446854.1:c.31T>G	XP_024302622.1:p.Leu11Val
NM_005614.4:c.64T>G MANE Select	NP_005605.1:p.Leu22Val