Canonical Allele Identifier: CA338138383
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474027T>C , CM000663.2:g.6474027T>C GRCh38
NC_000001.10:g.6534087T>C , CM000663.1:g.6534087T>C GRCh37
NC_000001.9:g.6456674T>C NCBI36
NG_007978.1:g.50983A>G , LRG_262:g.50983A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.577A>G ENSP00000344570.5:p.Ser193Gly
ENST00000377728.8:c.577A>G MANE Select ENSP00000366957.3:p.Ser193Gly
ENST00000377740.5:c.577A>G ENSP00000366969.4:p.Ser193Gly
ENST00000377748.6:c.751A>G ENSP00000366977.2:p.Ser251Gly
ENST00000400913.6:c.577A>G ENSP00000383704.1:p.Ser193Gly
ENST00000400915.8:c.688A>G ENSP00000383706.4:p.Ser230Gly
ENST00000489097.6:n.1053A>G
ENST00000535355.6:c.784A>G ENSP00000441445.1:p.Ser262Gly
ENST00000537245.6:c.688A>G ENSP00000439625.2:p.Ser230Gly
ENST00000673471.2:c.874A>G ENSP00000500749.1:p.Ser292Gly
ENST00000674790.1:c.*789A>G ENSP00000502815.1:n.*789A>G
ENST00000675123.1:c.577A>G ENSP00000502132.1:p.Ser193Gly
ENST00000675548.1:c.*405A>G ENSP00000502684.1:n.*405A>G
ENST00000675694.1:c.577A>G ENSP00000501925.1:p.Ser193Gly
ENST00000340850.9:c.577A>G ENSP00000344570.5:p.Ser193Gly
ENST00000377725.5:c.577A>G ENSP00000366954.1:p.Ser193Gly
ENST00000377728.7:c.577A>G ENSP00000366957.3:p.Ser193Gly
ENST00000377732.5:c.688A>G ENSP00000366961.1:p.Ser230Gly
ENST00000377740.4:c.808A>G ENSP00000366969.3:p.Ser270Gly
ENST00000377748.5:c.808A>G ENSP00000366977.1:p.Ser270Gly
ENST00000400913.5:c.577A>G ENSP00000383704.1:p.Ser193Gly
ENST00000400915.7:c.745A>G ENSP00000383706.3:p.Ser249Gly
ENST00000489097.5:n.1053A>G
ENST00000535355.5:c.784A>G ENSP00000441445.1:p.Ser262Gly
ENST00000537245.5:c.814A>G ENSP00000439625.1:p.Ser272Gly
NM_001042663.1:c.745A>G NP_001036128.1:p.Ser249Gly
NM_001042664.1:c.577A>G NP_001036129.1:p.Ser193Gly
NM_001042665.1:c.577A>G NP_001036130.1:p.Ser193Gly
NM_001265592.1:c.814A>G NP_001252521.1:p.Ser272Gly
NM_001265593.1:c.784A>G NP_001252522.1:p.Ser262Gly
NM_001265594.1:c.577A>G NP_001252523.1:p.Ser193Gly
NM_020631.4:c.577A>G NP_065682.2:p.Ser193Gly
NM_198681.3:c.808A>G NP_941374.2:p.Ser270Gly
NM_001042663.2:c.745A>G NP_001036128.1:p.Ser249Gly
NM_001265594.2:c.577A>G NP_001252523.1:p.Ser193Gly
NM_020631.5:c.577A>G NP_065682.2:p.Ser193Gly
NM_001042663.3:c.688A>G NP_001036128.2:p.Ser230Gly
NM_001265592.2:c.688A>G NP_001252521.2:p.Ser230Gly
NM_020631.6:c.577A>G MANE Select NP_065682.2:p.Ser193Gly
NM_198681.4:c.577A>G NP_941374.3:p.Ser193Gly