Canonical Allele Identifier: CA338139130
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474480C>T , CM000663.2:g.6474480C>T GRCh38
NC_000001.10:g.6534540C>T , CM000663.1:g.6534540C>T GRCh37
NC_000001.9:g.6457127C>T NCBI36
NG_007978.1:g.50530G>A , LRG_262:g.50530G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.410G>A ENSP00000344570.5:p.Arg137Lys
ENST00000377728.8:c.410G>A MANE Select ENSP00000366957.3:p.Arg137Lys
ENST00000377740.5:c.410G>A ENSP00000366969.4:p.Arg137Lys
ENST00000377748.6:c.584G>A ENSP00000366977.2:p.Arg195Lys
ENST00000400913.6:c.410G>A ENSP00000383704.1:p.Arg137Lys
ENST00000400915.8:c.521G>A ENSP00000383706.4:p.Arg174Lys
ENST00000489097.6:n.886G>A
ENST00000535355.6:c.617G>A ENSP00000441445.1:p.Arg206Lys
ENST00000537245.6:c.521G>A ENSP00000439625.2:p.Arg174Lys
ENST00000673471.2:c.707G>A ENSP00000500749.1:p.Arg236Lys
ENST00000674790.1:c.*622G>A ENSP00000502815.1:n.*622G>A
ENST00000675123.1:c.410G>A ENSP00000502132.1:p.Arg137Lys
ENST00000675548.1:c.*238G>A ENSP00000502684.1:n.*238G>A
ENST00000675694.1:c.410G>A ENSP00000501925.1:p.Arg137Lys
ENST00000676255.1:c.372G>A ENSP00000502459.1:n.372G>A
ENST00000340850.9:c.410G>A ENSP00000344570.5:p.Arg137Lys
ENST00000377725.5:c.410G>A ENSP00000366954.1:p.Arg137Lys
ENST00000377728.7:c.410G>A ENSP00000366957.3:p.Arg137Lys
ENST00000377732.5:c.521G>A ENSP00000366961.1:p.Arg174Lys
ENST00000377740.4:c.641G>A ENSP00000366969.3:p.Arg214Lys
ENST00000377748.5:c.641G>A ENSP00000366977.1:p.Arg214Lys
ENST00000400913.5:c.410G>A ENSP00000383704.1:p.Arg137Lys
ENST00000400915.7:c.578G>A ENSP00000383706.3:p.Arg193Lys
ENST00000489097.5:n.886G>A
ENST00000535355.5:c.617G>A ENSP00000441445.1:p.Arg206Lys
ENST00000537245.5:c.647G>A ENSP00000439625.1:p.Arg216Lys
NM_001042663.1:c.578G>A NP_001036128.1:p.Arg193Lys
NM_001042664.1:c.410G>A NP_001036129.1:p.Arg137Lys
NM_001042665.1:c.410G>A NP_001036130.1:p.Arg137Lys
NM_001265592.1:c.647G>A NP_001252521.1:p.Arg216Lys
NM_001265593.1:c.617G>A NP_001252522.1:p.Arg206Lys
NM_001265594.1:c.410G>A NP_001252523.1:p.Arg137Lys
NM_020631.4:c.410G>A NP_065682.2:p.Arg137Lys
NM_198681.3:c.641G>A NP_941374.2:p.Arg214Lys
NM_001042663.2:c.578G>A NP_001036128.1:p.Arg193Lys
NM_001265594.2:c.410G>A NP_001252523.1:p.Arg137Lys
NM_020631.5:c.410G>A NP_065682.2:p.Arg137Lys
NM_001042663.3:c.521G>A NP_001036128.2:p.Arg174Lys
NM_001265592.2:c.521G>A NP_001252521.2:p.Arg174Lys
NM_020631.6:c.410G>A MANE Select NP_065682.2:p.Arg137Lys
NM_198681.4:c.410G>A NP_941374.3:p.Arg137Lys