Canonical Allele Identifier: CA370052673
Gene: RHEB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151490978T>C , CM000669.2:g.151490978T>C GRCh38
NC_000007.13:g.151188064T>C , CM000669.1:g.151188064T>C GRCh37
NC_000007.12:g.150818997T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262187.10:c.89A>G MANE Select ENSP00000262187.5:p.Gln30Arg
ENST00000262187.9:c.89A>G ENSP00000262187.5:p.Gln30Arg
ENST00000470370.1:c.-227A>G ENSP00000417212.1:n.-227A>G
ENST00000472642.5:c.-227A>G ENSP00000420726.1:n.-227A>G
ENST00000478470.5:c.*37A>G ENSP00000417802.1:n.*37A>G
ENST00000496004.5:c.-227A>G ENSP00000418161.1:n.-227A>G
NM_005614.3:c.89A>G NP_005605.1:p.Gln30Arg
XM_011516457.1:c.56A>G XP_011514759.1:p.Gln19Arg
XM_011516457.2:c.56A>G XP_011514759.1:p.Gln19Arg
XM_024446854.1:c.56A>G XP_024302622.1:p.Gln19Arg
NM_005614.4:c.89A>G MANE Select NP_005605.1:p.Gln30Arg