Canonical Allele Identifier: CA562067
Gene: PLEKHG5 HGNC NCBI

Linked Data

dbSNP Id: rs778080095
gnomAD v2: 1-6537706-C-T
gnomAD v3: 1-6477646-C-T
gnomAD v4: 1-6477646-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6477646C>T , CM000663.2:g.6477646C>T GRCh38
NC_000001.10:g.6537706C>T , CM000663.1:g.6537706C>T GRCh37
NC_000001.9:g.6460293C>T NCBI36
NG_007978.1:g.47364G>A , LRG_262:g.47364G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.-75G>A ENSP00000344570.5:n.-75G>A
ENST00000377728.8:c.-75G>A MANE Select ENSP00000366957.3:n.-75G>A
ENST00000377740.5:c.-75G>A ENSP00000366969.4:n.-75G>A
ENST00000377748.6:c.37G>A ENSP00000366977.2:p.Ala13Thr
ENST00000400913.6:c.-75G>A ENSP00000383704.1:n.-75G>A
ENST00000400915.8:c.37G>A ENSP00000383706.4:p.Ala13Thr
ENST00000535355.6:c.133G>A ENSP00000441445.1:p.Ala45Thr
ENST00000537245.6:c.37G>A ENSP00000439625.2:p.Ala13Thr
ENST00000673471.2:c.223G>A ENSP00000500749.1:p.Ala75Thr
ENST00000674790.1:c.*138G>A ENSP00000502815.1:n.*138G>A
ENST00000674803.1:n.156G>A
ENST00000675093.1:c.-75G>A ENSP00000502687.1:n.-75G>A
ENST00000675123.1:c.-75G>A ENSP00000502132.1:n.-75G>A
ENST00000675548.1:c.111G>A ENSP00000502684.1:p.Thr37=
ENST00000675655.1:n.132G>A
ENST00000675694.1:c.-75G>A ENSP00000501925.1:n.-75G>A
ENST00000676287.1:c.-75G>A ENSP00000502810.1:n.-75G>A
ENST00000676362.1:n.149G>A
ENST00000340850.9:c.-75G>A ENSP00000344570.5:n.-75G>A
ENST00000377725.5:c.-75G>A ENSP00000366954.1:n.-75G>A
ENST00000377728.7:c.-75G>A ENSP00000366957.3:n.-75G>A
ENST00000377732.5:c.37G>A ENSP00000366961.1:p.Ala13Thr
ENST00000377740.4:c.157G>A ENSP00000366969.3:p.Ala53Thr
ENST00000377748.5:c.157G>A ENSP00000366977.1:p.Ala53Thr
ENST00000400913.5:c.-75G>A ENSP00000383704.1:n.-75G>A
ENST00000400915.7:c.94G>A ENSP00000383706.3:p.Ala32Thr
ENST00000535355.5:c.133G>A ENSP00000441445.1:p.Ala45Thr
ENST00000537245.5:c.163G>A ENSP00000439625.1:p.Ala55Thr
NM_001042663.1:c.94G>A NP_001036128.1:p.Ala32Thr
NM_001042664.1:c.-75G>A NP_001036129.1:n.-75G>A
NM_001042665.1:c.-75G>A NP_001036130.1:n.-75G>A
NM_001265592.1:c.163G>A NP_001252521.1:p.Ala55Thr
NM_001265593.1:c.133G>A NP_001252522.1:p.Ala45Thr
NM_001265594.1:c.-75G>A NP_001252523.1:n.-75G>A
NM_020631.4:c.-75G>A NP_065682.2:n.-75G>A
NM_198681.3:c.157G>A NP_941374.2:p.Ala53Thr
NM_001042663.2:c.94G>A NP_001036128.1:p.Ala32Thr
NM_001265594.2:c.-75G>A NP_001252523.1:n.-75G>A
NM_020631.5:c.-75G>A NP_065682.2:n.-75G>A
NM_001042663.3:c.37G>A NP_001036128.2:p.Ala13Thr
NM_001265592.2:c.37G>A NP_001252521.2:p.Ala13Thr
NM_020631.6:c.-75G>A MANE Select NP_065682.2:n.-75G>A
NM_198681.4:c.-75G>A NP_941374.3:n.-75G>A