Canonical Allele Identifier: CA17235025
Gene: PLEKHG5 HGNC NCBI

Linked Data

dbSNP Id: rs919629568
gnomAD v2: 1-6529262-T-G
gnomAD v3: 1-6469202-T-G
gnomAD v4: 1-6469202-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6469202T>G , CM000663.2:g.6469202T>G GRCh38
NC_000001.10:g.6529262T>G , CM000663.1:g.6529262T>G GRCh37
NC_000001.9:g.6451849T>G NCBI36
NG_007978.1:g.55808A>C , LRG_262:g.55808A>C
NG_029910.1:g.1994A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.2089A>C ENSP00000344570.5:p.Ser697Arg
ENST00000377728.8:c.2089A>C MANE Select ENSP00000366957.3:p.Ser697Arg
ENST00000377740.5:c.2089A>C ENSP00000366969.4:p.Ser697Arg
ENST00000377748.6:c.2263A>C ENSP00000366977.2:p.Ser755Arg
ENST00000400913.6:c.2089A>C ENSP00000383704.1:p.Ser697Arg
ENST00000400915.8:c.2200A>C ENSP00000383706.4:p.Ser734Arg
ENST00000489097.6:n.2565A>C
ENST00000535355.6:c.2296A>C ENSP00000441445.1:p.Ser766Arg
ENST00000537245.6:c.2200A>C ENSP00000439625.2:p.Ser734Arg
ENST00000673471.2:c.2386A>C ENSP00000500749.1:p.Ser796Arg
ENST00000674790.1:c.*2301A>C ENSP00000502815.1:n.*2301A>C
ENST00000675123.1:c.2089A>C ENSP00000502132.1:p.Ser697Arg
ENST00000675139.1:n.160A>C
ENST00000675548.1:c.*1917A>C ENSP00000502684.1:n.*1917A>C
ENST00000675694.1:c.2089A>C ENSP00000501925.1:p.Ser697Arg
ENST00000340850.9:c.2089A>C ENSP00000344570.5:p.Ser697Arg
ENST00000377725.5:c.2089A>C ENSP00000366954.1:p.Ser697Arg
ENST00000377728.7:c.2089A>C ENSP00000366957.3:p.Ser697Arg
ENST00000377732.5:c.2200A>C ENSP00000366961.1:p.Ser734Arg
ENST00000377740.4:c.2320A>C ENSP00000366969.3:p.Ser774Arg
ENST00000377748.5:c.2320A>C ENSP00000366977.1:p.Ser774Arg
ENST00000400913.5:c.2089A>C ENSP00000383704.1:p.Ser697Arg
ENST00000400915.7:c.2257A>C ENSP00000383706.3:p.Ser753Arg
ENST00000487949.4:n.1291A>C
ENST00000489097.5:n.2565A>C
ENST00000535355.5:c.2296A>C ENSP00000441445.1:p.Ser766Arg
ENST00000537245.5:c.2326A>C ENSP00000439625.1:p.Ser776Arg
NM_001042663.1:c.2257A>C NP_001036128.1:p.Ser753Arg
NM_001042664.1:c.2089A>C NP_001036129.1:p.Ser697Arg
NM_001042665.1:c.2089A>C NP_001036130.1:p.Ser697Arg
NM_001265592.1:c.2326A>C NP_001252521.1:p.Ser776Arg
NM_001265593.1:c.2296A>C NP_001252522.1:p.Ser766Arg
NM_001265594.1:c.2089A>C NP_001252523.1:p.Ser697Arg
NM_020631.4:c.2089A>C NP_065682.2:p.Ser697Arg
NM_198681.3:c.2320A>C NP_941374.2:p.Ser774Arg
NM_001042663.2:c.2257A>C NP_001036128.1:p.Ser753Arg
NM_001265594.2:c.2089A>C NP_001252523.1:p.Ser697Arg
NM_020631.5:c.2089A>C NP_065682.2:p.Ser697Arg
NM_001042663.3:c.2200A>C NP_001036128.2:p.Ser734Arg
NM_001265592.2:c.2200A>C NP_001252521.2:p.Ser734Arg
NM_020631.6:c.2089A>C MANE Select NP_065682.2:p.Ser697Arg
NM_198681.4:c.2089A>C NP_941374.3:p.Ser697Arg