Canonical Allele Identifier: CA370052753

Gene: RHEB

Linked Data

• MyVariant Identifiers: chr7:g.151188100C>A (hg19) ; chr7:g.151491014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151491014C>A , CM000669.2:g.151491014C>A	GRCh38
NC_000007.13:g.151188100C>A , CM000669.1:g.151188100C>A	GRCh37
NC_000007.12:g.150819033C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262187.10:c.53G>T MANE Select	ENSP00000262187.5:p.Gly18Val
ENST00000262187.9:c.53G>T	ENSP00000262187.5:p.Gly18Val
ENST00000470370.1:c.-263G>T	ENSP00000417212.1:n.-263G>T
ENST00000472642.5:c.-263G>T	ENSP00000420726.1:n.-263G>T
ENST00000478470.5:c.*1G>T	ENSP00000417802.1:n.*1G>T
ENST00000496004.5:c.-263G>T	ENSP00000418161.1:n.-263G>T
NM_005614.3:c.53G>T	NP_005605.1:p.Gly18Val
XM_011516457.1:c.20G>T	XP_011514759.1:p.Gly7Val
XM_011516457.2:c.20G>T	XP_011514759.1:p.Gly7Val
XM_024446854.1:c.20G>T	XP_024302622.1:p.Gly7Val
NM_005614.4:c.53G>T MANE Select	NP_005605.1:p.Gly18Val