Canonical Allele Identifier: CA338138883
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474143T>G , CM000663.2:g.6474143T>G GRCh38
NC_000001.10:g.6534203T>G , CM000663.1:g.6534203T>G GRCh37
NC_000001.9:g.6456790T>G NCBI36
NG_007978.1:g.50867A>C , LRG_262:g.50867A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.461A>C ENSP00000344570.5:p.Glu154Ala
ENST00000377728.8:c.461A>C MANE Select ENSP00000366957.3:p.Glu154Ala
ENST00000377740.5:c.461A>C ENSP00000366969.4:p.Glu154Ala
ENST00000377748.6:c.635A>C ENSP00000366977.2:p.Glu212Ala
ENST00000400913.6:c.461A>C ENSP00000383704.1:p.Glu154Ala
ENST00000400915.8:c.572A>C ENSP00000383706.4:p.Glu191Ala
ENST00000489097.6:n.937A>C
ENST00000535355.6:c.668A>C ENSP00000441445.1:p.Glu223Ala
ENST00000537245.6:c.572A>C ENSP00000439625.2:p.Glu191Ala
ENST00000673471.2:c.758A>C ENSP00000500749.1:p.Glu253Ala
ENST00000674790.1:c.*673A>C ENSP00000502815.1:n.*673A>C
ENST00000675123.1:c.461A>C ENSP00000502132.1:p.Glu154Ala
ENST00000675548.1:c.*289A>C ENSP00000502684.1:n.*289A>C
ENST00000675694.1:c.461A>C ENSP00000501925.1:p.Glu154Ala
ENST00000340850.9:c.461A>C ENSP00000344570.5:p.Glu154Ala
ENST00000377725.5:c.461A>C ENSP00000366954.1:p.Glu154Ala
ENST00000377728.7:c.461A>C ENSP00000366957.3:p.Glu154Ala
ENST00000377732.5:c.572A>C ENSP00000366961.1:p.Glu191Ala
ENST00000377740.4:c.692A>C ENSP00000366969.3:p.Glu231Ala
ENST00000377748.5:c.692A>C ENSP00000366977.1:p.Glu231Ala
ENST00000400913.5:c.461A>C ENSP00000383704.1:p.Glu154Ala
ENST00000400915.7:c.629A>C ENSP00000383706.3:p.Glu210Ala
ENST00000489097.5:n.937A>C
ENST00000535355.5:c.668A>C ENSP00000441445.1:p.Glu223Ala
ENST00000537245.5:c.698A>C ENSP00000439625.1:p.Glu233Ala
NM_001042663.1:c.629A>C NP_001036128.1:p.Glu210Ala
NM_001042664.1:c.461A>C NP_001036129.1:p.Glu154Ala
NM_001042665.1:c.461A>C NP_001036130.1:p.Glu154Ala
NM_001265592.1:c.698A>C NP_001252521.1:p.Glu233Ala
NM_001265593.1:c.668A>C NP_001252522.1:p.Glu223Ala
NM_001265594.1:c.461A>C NP_001252523.1:p.Glu154Ala
NM_020631.4:c.461A>C NP_065682.2:p.Glu154Ala
NM_198681.3:c.692A>C NP_941374.2:p.Glu231Ala
NM_001042663.2:c.629A>C NP_001036128.1:p.Glu210Ala
NM_001265594.2:c.461A>C NP_001252523.1:p.Glu154Ala
NM_020631.5:c.461A>C NP_065682.2:p.Glu154Ala
NM_001042663.3:c.572A>C NP_001036128.2:p.Glu191Ala
NM_001265592.2:c.572A>C NP_001252521.2:p.Glu191Ala
NM_020631.6:c.461A>C MANE Select NP_065682.2:p.Glu154Ala
NM_198681.4:c.461A>C NP_941374.3:p.Glu154Ala