Canonical Allele Identifier: CA2685694645
Gene: RHEB HGNC NCBI

Linked Data

gnomAD v4: 7-151491042-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151491042G>T , CM000669.2:g.151491042G>T GRCh38
NC_000007.13:g.151188128G>T , CM000669.1:g.151188128G>T GRCh37
NC_000007.12:g.150819061G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262187.10:c.53-28C>A MANE Select ENSP00000262187.5:n.53-28C>A
ENST00000262187.9:c.53-28C>A ENSP00000262187.5:n.53-28C>A
ENST00000470370.1:c.-263-28C>A ENSP00000417212.1:n.-263-28C>A
ENST00000472642.5:c.-263-28C>A ENSP00000420726.1:n.-263-28C>A
ENST00000478470.5:c.*1-28C>A ENSP00000417802.1:n.*1-28C>A
ENST00000496004.5:c.-263-28C>A ENSP00000418161.1:n.-263-28C>A
NM_005614.3:c.53-28C>A NP_005605.1:n.53-28C>A
XM_011516457.1:c.20-28C>A XP_011514759.1:n.20-28C>A
XM_011516457.2:c.20-28C>A XP_011514759.1:n.20-28C>A
XM_024446854.1:c.20-28C>A XP_024302622.1:n.20-28C>A
NM_005614.4:c.53-28C>A MANE Select NP_005605.1:n.53-28C>A
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