Canonical Allele Identifier: CA458660997

Gene: RHEB

Linked Data

• dbSNP Id: rs1201839633
• gnomAD v4: 7-151490968-G-A
• MyVariant Identifiers: chr7:g.151188054G>A (hg19) ; chr7:g.151490968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151490968G>A , CM000669.2:g.151490968G>A	GRCh38
NC_000007.13:g.151188054G>A , CM000669.1:g.151188054G>A	GRCh37
NC_000007.12:g.150818987G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262187.10:c.99C>T MANE Select	ENSP00000262187.5:p.Asp33=
ENST00000262187.9:c.99C>T	ENSP00000262187.5:p.Asp33=
ENST00000470370.1:c.-217C>T	ENSP00000417212.1:n.-217C>T
ENST00000472642.5:c.-217C>T	ENSP00000420726.1:n.-217C>T
ENST00000478470.5:c.*47C>T	ENSP00000417802.1:n.*47C>T
ENST00000496004.5:c.-217C>T	ENSP00000418161.1:n.-217C>T
NM_005614.3:c.99C>T	NP_005605.1:p.Asp33=
XM_011516457.1:c.66C>T	XP_011514759.1:p.Asp22=
XM_011516457.2:c.66C>T	XP_011514759.1:p.Asp22=
XM_024446854.1:c.66C>T	XP_024302622.1:p.Asp22=
NM_005614.4:c.99C>T MANE Select	NP_005605.1:p.Asp33=