Canonical Allele Identifier: CA561864
Gene: PLEKHG5 HGNC NCBI

Linked Data

dbSNP Id: rs747331732
gnomAD v2: 1-6534525-T-C
gnomAD v4: 1-6474465-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474465T>C , CM000663.2:g.6474465T>C GRCh38
NC_000001.10:g.6534525T>C , CM000663.1:g.6534525T>C GRCh37
NC_000001.9:g.6457112T>C NCBI36
NG_007978.1:g.50545A>G , LRG_262:g.50545A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.425A>G ENSP00000344570.5:p.Tyr142Cys
ENST00000377728.8:c.425A>G MANE Select ENSP00000366957.3:p.Tyr142Cys
ENST00000377740.5:c.425A>G ENSP00000366969.4:p.Tyr142Cys
ENST00000377748.6:c.599A>G ENSP00000366977.2:p.Tyr200Cys
ENST00000400913.6:c.425A>G ENSP00000383704.1:p.Tyr142Cys
ENST00000400915.8:c.536A>G ENSP00000383706.4:p.Tyr179Cys
ENST00000489097.6:n.901A>G
ENST00000535355.6:c.632A>G ENSP00000441445.1:p.Tyr211Cys
ENST00000537245.6:c.536A>G ENSP00000439625.2:p.Tyr179Cys
ENST00000673471.2:c.722A>G ENSP00000500749.1:p.Tyr241Cys
ENST00000674790.1:c.*637A>G ENSP00000502815.1:n.*637A>G
ENST00000675123.1:c.425A>G ENSP00000502132.1:p.Tyr142Cys
ENST00000675548.1:c.*253A>G ENSP00000502684.1:n.*253A>G
ENST00000675694.1:c.425A>G ENSP00000501925.1:p.Tyr142Cys
ENST00000676255.1:c.387A>G ENSP00000502459.1:n.387A>G
ENST00000340850.9:c.425A>G ENSP00000344570.5:p.Tyr142Cys
ENST00000377725.5:c.425A>G ENSP00000366954.1:p.Tyr142Cys
ENST00000377728.7:c.425A>G ENSP00000366957.3:p.Tyr142Cys
ENST00000377732.5:c.536A>G ENSP00000366961.1:p.Tyr179Cys
ENST00000377740.4:c.656A>G ENSP00000366969.3:p.Tyr219Cys
ENST00000377748.5:c.656A>G ENSP00000366977.1:p.Tyr219Cys
ENST00000400913.5:c.425A>G ENSP00000383704.1:p.Tyr142Cys
ENST00000400915.7:c.593A>G ENSP00000383706.3:p.Tyr198Cys
ENST00000489097.5:n.901A>G
ENST00000535355.5:c.632A>G ENSP00000441445.1:p.Tyr211Cys
ENST00000537245.5:c.662A>G ENSP00000439625.1:p.Tyr221Cys
NM_001042663.1:c.593A>G NP_001036128.1:p.Tyr198Cys
NM_001042664.1:c.425A>G NP_001036129.1:p.Tyr142Cys
NM_001042665.1:c.425A>G NP_001036130.1:p.Tyr142Cys
NM_001265592.1:c.662A>G NP_001252521.1:p.Tyr221Cys
NM_001265593.1:c.632A>G NP_001252522.1:p.Tyr211Cys
NM_001265594.1:c.425A>G NP_001252523.1:p.Tyr142Cys
NM_020631.4:c.425A>G NP_065682.2:p.Tyr142Cys
NM_198681.3:c.656A>G NP_941374.2:p.Tyr219Cys
NM_001042663.2:c.593A>G NP_001036128.1:p.Tyr198Cys
NM_001265594.2:c.425A>G NP_001252523.1:p.Tyr142Cys
NM_020631.5:c.425A>G NP_065682.2:p.Tyr142Cys
NM_001042663.3:c.536A>G NP_001036128.2:p.Tyr179Cys
NM_001265592.2:c.536A>G NP_001252521.2:p.Tyr179Cys
NM_020631.6:c.425A>G MANE Select NP_065682.2:p.Tyr142Cys
NM_198681.4:c.425A>G NP_941374.3:p.Tyr142Cys