Canonical Allele Identifier: CA16602944
Gene: RHEB HGNC NCBI

Linked Data

ClinVar Variation Id: 376515
ClinVar RCV Id: RCV000423686 RCV000430945 RCV000434350 RCV000441833
dbSNP Id: rs1057519949
COSMIC: COSM485065
MyVariant Identifiers: chr7:g.151188050A>T (hg19) chr7:g.151490964A>T (hg38)
PubMed: PMID:26619011
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151490964A>T , CM000669.2:g.151490964A>T GRCh38
NC_000007.13:g.151188050A>T , CM000669.1:g.151188050A>T GRCh37
NC_000007.12:g.150818983A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262187.10:c.103T>A MANE Select ENSP00000262187.5:p.Tyr35Asn
ENST00000262187.9:c.103T>A ENSP00000262187.5:p.Tyr35Asn
ENST00000470370.1:c.-213T>A ENSP00000417212.1:n.-213T>A
ENST00000472642.5:c.-213T>A ENSP00000420726.1:n.-213T>A
ENST00000478470.5:c.*51T>A ENSP00000417802.1:n.*51T>A
ENST00000496004.5:c.-213T>A ENSP00000418161.1:n.-213T>A
NM_005614.3:c.103T>A NP_005605.1:p.Tyr35Asn
XM_011516457.1:c.70T>A XP_011514759.1:p.Tyr24Asn
XM_011516457.2:c.70T>A XP_011514759.1:p.Tyr24Asn
XM_024446854.1:c.70T>A XP_024302622.1:p.Tyr24Asn
NM_005614.4:c.103T>A MANE Select NP_005605.1:p.Tyr35Asn
Search 100 bp 5'
Search 100 bp 3'