Canonical Allele Identifier: CA338138939
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474158G>A , CM000663.2:g.6474158G>A GRCh38
NC_000001.10:g.6534218G>A , CM000663.1:g.6534218G>A GRCh37
NC_000001.9:g.6456805G>A NCBI36
NG_007978.1:g.50852C>T , LRG_262:g.50852C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.446C>T ENSP00000344570.5:p.Ala149Val
ENST00000377728.8:c.446C>T MANE Select ENSP00000366957.3:p.Ala149Val
ENST00000377740.5:c.446C>T ENSP00000366969.4:p.Ala149Val
ENST00000377748.6:c.620C>T ENSP00000366977.2:p.Ala207Val
ENST00000400913.6:c.446C>T ENSP00000383704.1:p.Ala149Val
ENST00000400915.8:c.557C>T ENSP00000383706.4:p.Ala186Val
ENST00000489097.6:n.922C>T
ENST00000535355.6:c.653C>T ENSP00000441445.1:p.Ala218Val
ENST00000537245.6:c.557C>T ENSP00000439625.2:p.Ala186Val
ENST00000673471.2:c.743C>T ENSP00000500749.1:p.Ala248Val
ENST00000674790.1:c.*658C>T ENSP00000502815.1:n.*658C>T
ENST00000675123.1:c.446C>T ENSP00000502132.1:p.Ala149Val
ENST00000675548.1:c.*274C>T ENSP00000502684.1:n.*274C>T
ENST00000675694.1:c.446C>T ENSP00000501925.1:p.Ala149Val
ENST00000340850.9:c.446C>T ENSP00000344570.5:p.Ala149Val
ENST00000377725.5:c.446C>T ENSP00000366954.1:p.Ala149Val
ENST00000377728.7:c.446C>T ENSP00000366957.3:p.Ala149Val
ENST00000377732.5:c.557C>T ENSP00000366961.1:p.Ala186Val
ENST00000377740.4:c.677C>T ENSP00000366969.3:p.Ala226Val
ENST00000377748.5:c.677C>T ENSP00000366977.1:p.Ala226Val
ENST00000400913.5:c.446C>T ENSP00000383704.1:p.Ala149Val
ENST00000400915.7:c.614C>T ENSP00000383706.3:p.Ala205Val
ENST00000489097.5:n.922C>T
ENST00000535355.5:c.653C>T ENSP00000441445.1:p.Ala218Val
ENST00000537245.5:c.683C>T ENSP00000439625.1:p.Ala228Val
NM_001042663.1:c.614C>T NP_001036128.1:p.Ala205Val
NM_001042664.1:c.446C>T NP_001036129.1:p.Ala149Val
NM_001042665.1:c.446C>T NP_001036130.1:p.Ala149Val
NM_001265592.1:c.683C>T NP_001252521.1:p.Ala228Val
NM_001265593.1:c.653C>T NP_001252522.1:p.Ala218Val
NM_001265594.1:c.446C>T NP_001252523.1:p.Ala149Val
NM_020631.4:c.446C>T NP_065682.2:p.Ala149Val
NM_198681.3:c.677C>T NP_941374.2:p.Ala226Val
NM_001042663.2:c.614C>T NP_001036128.1:p.Ala205Val
NM_001265594.2:c.446C>T NP_001252523.1:p.Ala149Val
NM_020631.5:c.446C>T NP_065682.2:p.Ala149Val
NM_001042663.3:c.557C>T NP_001036128.2:p.Ala186Val
NM_001265592.2:c.557C>T NP_001252521.2:p.Ala186Val
NM_020631.6:c.446C>T MANE Select NP_065682.2:p.Ala149Val
NM_198681.4:c.446C>T NP_941374.3:p.Ala149Val