Canonical Allele Identifier: CA562054
Gene: PLEKHG5 HGNC NCBI

Linked Data

dbSNP Id: rs375424537
gnomAD v2: 1-6537657-G-A
gnomAD v3: 1-6477597-G-A
gnomAD v4: 1-6477597-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6477597G>A , CM000663.2:g.6477597G>A GRCh38
NC_000001.10:g.6537657G>A , CM000663.1:g.6537657G>A GRCh37
NC_000001.9:g.6460244G>A NCBI36
NG_007978.1:g.47413C>T , LRG_262:g.47413C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.-26C>T ENSP00000344570.5:n.-26C>T
ENST00000377728.8:c.-26C>T MANE Select ENSP00000366957.3:n.-26C>T
ENST00000377740.5:c.-26C>T ENSP00000366969.4:n.-26C>T
ENST00000377748.6:c.86C>T ENSP00000366977.2:p.Ala29Val
ENST00000400913.6:c.-26C>T ENSP00000383704.1:n.-26C>T
ENST00000400915.8:c.86C>T ENSP00000383706.4:p.Ala29Val
ENST00000535355.6:c.182C>T ENSP00000441445.1:p.Ala61Val
ENST00000537245.6:c.86C>T ENSP00000439625.2:p.Ala29Val
ENST00000673471.2:c.272C>T ENSP00000500749.1:p.Ala91Val
ENST00000674790.1:c.*187C>T ENSP00000502815.1:n.*187C>T
ENST00000674803.1:n.205C>T
ENST00000675093.1:c.-26C>T ENSP00000502687.1:n.-26C>T
ENST00000675123.1:c.-26C>T ENSP00000502132.1:n.-26C>T
ENST00000675548.1:c.160C>T ENSP00000502684.1:p.Pro54Ser
ENST00000675655.1:n.181C>T
ENST00000675694.1:c.-26C>T ENSP00000501925.1:n.-26C>T
ENST00000676287.1:c.-26C>T ENSP00000502810.1:n.-26C>T
ENST00000676362.1:n.198C>T
ENST00000340850.9:c.-26C>T ENSP00000344570.5:n.-26C>T
ENST00000377725.5:c.-26C>T ENSP00000366954.1:n.-26C>T
ENST00000377728.7:c.-26C>T ENSP00000366957.3:n.-26C>T
ENST00000377732.5:c.86C>T ENSP00000366961.1:p.Ala29Val
ENST00000377740.4:c.206C>T ENSP00000366969.3:p.Ala69Val
ENST00000377748.5:c.206C>T ENSP00000366977.1:p.Ala69Val
ENST00000400913.5:c.-26C>T ENSP00000383704.1:n.-26C>T
ENST00000400915.7:c.143C>T ENSP00000383706.3:p.Ala48Val
ENST00000535355.5:c.182C>T ENSP00000441445.1:p.Ala61Val
ENST00000537245.5:c.212C>T ENSP00000439625.1:p.Ala71Val
NM_001042663.1:c.143C>T NP_001036128.1:p.Ala48Val
NM_001042664.1:c.-26C>T NP_001036129.1:n.-26C>T
NM_001042665.1:c.-26C>T NP_001036130.1:n.-26C>T
NM_001265592.1:c.212C>T NP_001252521.1:p.Ala71Val
NM_001265593.1:c.182C>T NP_001252522.1:p.Ala61Val
NM_001265594.1:c.-26C>T NP_001252523.1:n.-26C>T
NM_020631.4:c.-26C>T NP_065682.2:n.-26C>T
NM_198681.3:c.206C>T NP_941374.2:p.Ala69Val
NM_001042663.2:c.143C>T NP_001036128.1:p.Ala48Val
NM_001265594.2:c.-26C>T NP_001252523.1:n.-26C>T
NM_020631.5:c.-26C>T NP_065682.2:n.-26C>T
NM_001042663.3:c.86C>T NP_001036128.2:p.Ala29Val
NM_001265592.2:c.86C>T NP_001252521.2:p.Ala29Val
NM_020631.6:c.-26C>T MANE Select NP_065682.2:n.-26C>T
NM_198681.4:c.-26C>T NP_941374.3:n.-26C>T