Canonical Allele Identifier: CA370052744
Gene: RHEB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151491009A>T , CM000669.2:g.151491009A>T GRCh38
NC_000007.13:g.151188095A>T , CM000669.1:g.151188095A>T GRCh37
NC_000007.12:g.150819028A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262187.10:c.58T>A MANE Select ENSP00000262187.5:p.Ser20Thr
ENST00000262187.9:c.58T>A ENSP00000262187.5:p.Ser20Thr
ENST00000470370.1:c.-258T>A ENSP00000417212.1:n.-258T>A
ENST00000472642.5:c.-258T>A ENSP00000420726.1:n.-258T>A
ENST00000478470.5:c.*6T>A ENSP00000417802.1:n.*6T>A
ENST00000496004.5:c.-258T>A ENSP00000418161.1:n.-258T>A
NM_005614.3:c.58T>A NP_005605.1:p.Ser20Thr
XM_011516457.1:c.25T>A XP_011514759.1:p.Ser9Thr
XM_011516457.2:c.25T>A XP_011514759.1:p.Ser9Thr
XM_024446854.1:c.25T>A XP_024302622.1:p.Ser9Thr
NM_005614.4:c.58T>A MANE Select NP_005605.1:p.Ser20Thr