Canonical Allele Identifier: CA370052666

Gene: RHEB

Linked Data

• gnomAD v4: 7-151490975-A-T
• MyVariant Identifiers: chr7:g.151188061A>T (hg19) ; chr7:g.151490975A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151490975A>T , CM000669.2:g.151490975A>T	GRCh38
NC_000007.13:g.151188061A>T , CM000669.1:g.151188061A>T	GRCh37
NC_000007.12:g.150818994A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262187.10:c.92T>A MANE Select	ENSP00000262187.5:p.Phe31Tyr
ENST00000262187.9:c.92T>A	ENSP00000262187.5:p.Phe31Tyr
ENST00000470370.1:c.-224T>A	ENSP00000417212.1:n.-224T>A
ENST00000472642.5:c.-224T>A	ENSP00000420726.1:n.-224T>A
ENST00000478470.5:c.*40T>A	ENSP00000417802.1:n.*40T>A
ENST00000496004.5:c.-224T>A	ENSP00000418161.1:n.-224T>A
NM_005614.3:c.92T>A	NP_005605.1:p.Phe31Tyr
XM_011516457.1:c.59T>A	XP_011514759.1:p.Phe20Tyr
XM_011516457.2:c.59T>A	XP_011514759.1:p.Phe20Tyr
XM_024446854.1:c.59T>A	XP_024302622.1:p.Phe20Tyr
NM_005614.4:c.92T>A MANE Select	NP_005605.1:p.Phe31Tyr