Canonical Allele Identifier: CA370052611

Gene: RHEB

Linked Data

• dbSNP Id: rs1802570192
• MyVariant Identifiers: chr7:g.151188037A>G (hg19) ; chr7:g.151490951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151490951A>G , CM000669.2:g.151490951A>G	GRCh38
NC_000007.13:g.151188037A>G , CM000669.1:g.151188037A>G	GRCh37
NC_000007.12:g.150818970A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262187.10:c.116T>C MANE Select	ENSP00000262187.5:p.Ile39Thr
ENST00000262187.9:c.116T>C	ENSP00000262187.5:p.Ile39Thr
ENST00000470370.1:c.-200T>C	ENSP00000417212.1:n.-200T>C
ENST00000472642.5:c.-200T>C	ENSP00000420726.1:n.-200T>C
ENST00000478470.5:c.*64T>C	ENSP00000417802.1:n.*64T>C
ENST00000496004.5:c.-200T>C	ENSP00000418161.1:n.-200T>C
NM_005614.3:c.116T>C	NP_005605.1:p.Ile39Thr
XM_011516457.1:c.83T>C	XP_011514759.1:p.Ile28Thr
XM_011516457.2:c.83T>C	XP_011514759.1:p.Ile28Thr
XM_024446854.1:c.83T>C	XP_024302622.1:p.Ile28Thr
NM_005614.4:c.116T>C MANE Select	NP_005605.1:p.Ile39Thr