Canonical Allele Identifier: CA366766847
Community Standard Title: NM_006908.5(RAC1):c.478C>G (p.Leu160Val)
Gene: RAC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6402345C>G , CM000669.2:g.6402345C>G GRCh38
NC_000007.13:g.6441976C>G , CM000669.1:g.6441976C>G GRCh37
NC_000007.12:g.6408501C>G NCBI36
NG_029431.1:g.32851C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006908.5:c.478C>G MANE Select NP_008839.2:p.Leu160Val
ENST00000348035.9:c.478C>G MANE Select ENSP00000258737.7:p.Leu160Val
NM_006908.4:c.478C>G NP_008839.2:p.Leu160Val
NM_018890.3:c.535C>G NP_061485.1:p.Leu179Val
NM_018890.4:c.535C>G NP_061485.1:p.Leu179Val
ENST00000348035.8:c.478C>G ENSP00000258737.7:p.Leu160Val
ENST00000356142.4:c.535C>G ENSP00000348461.4:p.Leu179Val
ENST00000473564.1:n.556C>G
ENST00000488373.5:n.709C>G
ENST00000495499.1:n.440C>G
ENST00000497741.5:n.494C>G
ENST00000704002.1:c.577C>G ENSP00000515615.1:p.Leu193Val
ENST00000704003.1:c.*431C>G ENSP00000515616.1:n.*431C>G