Canonical Allele Identifier: CA370052700
Gene: RHEB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151490990A>C , CM000669.2:g.151490990A>C GRCh38
NC_000007.13:g.151188076A>C , CM000669.1:g.151188076A>C GRCh37
NC_000007.12:g.150819009A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262187.10:c.77T>G MANE Select ENSP00000262187.5:p.Phe26Cys
ENST00000262187.9:c.77T>G ENSP00000262187.5:p.Phe26Cys
ENST00000470370.1:c.-239T>G ENSP00000417212.1:n.-239T>G
ENST00000472642.5:c.-239T>G ENSP00000420726.1:n.-239T>G
ENST00000478470.5:c.*25T>G ENSP00000417802.1:n.*25T>G
ENST00000496004.5:c.-239T>G ENSP00000418161.1:n.-239T>G
NM_005614.3:c.77T>G NP_005605.1:p.Phe26Cys
XM_011516457.1:c.44T>G XP_011514759.1:p.Phe15Cys
XM_011516457.2:c.44T>G XP_011514759.1:p.Phe15Cys
XM_024446854.1:c.44T>G XP_024302622.1:p.Phe15Cys
NM_005614.4:c.77T>G MANE Select NP_005605.1:p.Phe26Cys