Canonical Allele Identifier: CA16602943
Gene: RAC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376513
ClinVar RCV Id: RCV000426663 RCV000437331 RCV000443513 RCV000443658
dbSNP Id: rs1057519874
MyVariant Identifiers: chr7:g.6426892C>A (hg19) chr7:g.6387261C>A (hg38)
PubMed: PMID:26619011
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6387261C>A , CM000669.2:g.6387261C>A GRCh38
NC_000007.13:g.6426892C>A , CM000669.1:g.6426892C>A GRCh37
NC_000007.12:g.6393417C>A NCBI36
NG_029431.1:g.17767C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696666.1:n.273C>A
ENST00000704002.1:c.85C>A ENSP00000515615.1:p.Pro29Thr
ENST00000704003.1:c.*38C>A ENSP00000515616.1:n.*38C>A
ENST00000348035.9:c.85C>A MANE Select ENSP00000258737.7:p.Pro29Thr
ENST00000348035.8:c.85C>A ENSP00000258737.7:p.Pro29Thr
ENST00000356142.4:c.85C>A ENSP00000348461.4:p.Pro29Thr
ENST00000488373.5:n.316C>A
NM_006908.4:c.85C>A NP_008839.2:p.Pro29Thr
NM_018890.3:c.85C>A NP_061485.1:p.Pro29Thr
NM_006908.5:c.85C>A MANE Select NP_008839.2:p.Pro29Thr
NM_018890.4:c.85C>A NP_061485.1:p.Pro29Thr
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