Canonical Allele Identifier: CA338134179
Community Standard Title: NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter)
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6473061G>T , CM000663.2:g.6473061G>T GRCh38
NC_000001.10:g.6533121G>T , CM000663.1:g.6533121G>T GRCh37
NC_000001.9:g.6455708G>T NCBI36
NG_007978.1:g.51949C>A , LRG_262:g.51949C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020631.6:c.909C>A MANE Select NP_065682.2:p.Tyr303Ter
ENST00000377728.8:c.909C>A MANE Select ENSP00000366957.3:p.Tyr303Ter
NM_001042663.1:c.1077C>A NP_001036128.1:p.Tyr359Ter
NM_001042663.2:c.1077C>A NP_001036128.1:p.Tyr359Ter
NM_001042663.3:c.1020C>A NP_001036128.2:p.Tyr340Ter
NM_001042664.1:c.909C>A NP_001036129.1:p.Tyr303Ter
NM_001042665.1:c.909C>A NP_001036130.1:p.Tyr303Ter
NM_001265592.1:c.1146C>A NP_001252521.1:p.Tyr382Ter
NM_001265592.2:c.1020C>A NP_001252521.2:p.Tyr340Ter
NM_001265593.1:c.1116C>A NP_001252522.1:p.Tyr372Ter
NM_001265594.1:c.909C>A NP_001252523.1:p.Tyr303Ter
NM_001265594.2:c.909C>A NP_001252523.1:p.Tyr303Ter
NM_020631.4:c.909C>A NP_065682.2:p.Tyr303Ter
NM_020631.5:c.909C>A NP_065682.2:p.Tyr303Ter
NM_198681.3:c.1140C>A NP_941374.2:p.Tyr380Ter
NM_198681.4:c.909C>A NP_941374.3:p.Tyr303Ter
ENST00000340850.10:c.909C>A ENSP00000344570.5:p.Tyr303Ter
ENST00000340850.9:c.909C>A ENSP00000344570.5:p.Tyr303Ter
ENST00000377725.5:c.909C>A ENSP00000366954.1:p.Tyr303Ter
ENST00000377728.7:c.909C>A ENSP00000366957.3:p.Tyr303Ter
ENST00000377732.5:c.1020C>A ENSP00000366961.1:p.Tyr340Ter
ENST00000377740.4:c.1140C>A ENSP00000366969.3:p.Tyr380Ter
ENST00000377740.5:c.909C>A ENSP00000366969.4:p.Tyr303Ter
ENST00000377748.5:c.1140C>A ENSP00000366977.1:p.Tyr380Ter
ENST00000377748.6:c.1083C>A ENSP00000366977.2:p.Tyr361Ter
ENST00000400913.5:c.909C>A ENSP00000383704.1:p.Tyr303Ter
ENST00000400913.6:c.909C>A ENSP00000383704.1:p.Tyr303Ter
ENST00000400915.7:c.1077C>A ENSP00000383706.3:p.Tyr359Ter
ENST00000400915.8:c.1020C>A ENSP00000383706.4:p.Tyr340Ter
ENST00000489097.5:n.1385C>A
ENST00000489097.6:n.1385C>A
ENST00000535355.5:c.1116C>A ENSP00000441445.1:p.Tyr372Ter
ENST00000535355.6:c.1116C>A ENSP00000441445.1:p.Tyr372Ter
ENST00000537245.5:c.1146C>A ENSP00000439625.1:p.Tyr382Ter
ENST00000537245.6:c.1020C>A ENSP00000439625.2:p.Tyr340Ter
ENST00000673471.2:c.1206C>A ENSP00000500749.1:p.Tyr402Ter
ENST00000674790.1:c.*1121C>A ENSP00000502815.1:n.*1121C>A
ENST00000675123.1:c.909C>A ENSP00000502132.1:p.Tyr303Ter
ENST00000675548.1:c.*737C>A ENSP00000502684.1:n.*737C>A
ENST00000675694.1:c.909C>A ENSP00000501925.1:p.Tyr303Ter