Canonical Allele Identifier: CA338133544
Gene: PLEKHG5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6473005T>G , CM000663.2:g.6473005T>G GRCh38
NC_000001.10:g.6533065T>G , CM000663.1:g.6533065T>G GRCh37
NC_000001.9:g.6455652T>G NCBI36
NG_007978.1:g.52005A>C , LRG_262:g.52005A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.965A>C ENSP00000344570.5:p.Glu322Ala
ENST00000377728.8:c.965A>C MANE Select ENSP00000366957.3:p.Glu322Ala
ENST00000377740.5:c.965A>C ENSP00000366969.4:p.Glu322Ala
ENST00000377748.6:c.1139A>C ENSP00000366977.2:p.Glu380Ala
ENST00000400913.6:c.965A>C ENSP00000383704.1:p.Glu322Ala
ENST00000400915.8:c.1076A>C ENSP00000383706.4:p.Glu359Ala
ENST00000489097.6:n.1441A>C
ENST00000535355.6:c.1172A>C ENSP00000441445.1:p.Glu391Ala
ENST00000537245.6:c.1076A>C ENSP00000439625.2:p.Glu359Ala
ENST00000673471.2:c.1262A>C ENSP00000500749.1:p.Glu421Ala
ENST00000674790.1:c.*1177A>C ENSP00000502815.1:n.*1177A>C
ENST00000675123.1:c.965A>C ENSP00000502132.1:p.Glu322Ala
ENST00000675548.1:c.*793A>C ENSP00000502684.1:n.*793A>C
ENST00000675694.1:c.965A>C ENSP00000501925.1:p.Glu322Ala
ENST00000340850.9:c.965A>C ENSP00000344570.5:p.Glu322Ala
ENST00000377725.5:c.965A>C ENSP00000366954.1:p.Glu322Ala
ENST00000377728.7:c.965A>C ENSP00000366957.3:p.Glu322Ala
ENST00000377732.5:c.1076A>C ENSP00000366961.1:p.Glu359Ala
ENST00000377740.4:c.1196A>C ENSP00000366969.3:p.Glu399Ala
ENST00000377748.5:c.1196A>C ENSP00000366977.1:p.Glu399Ala
ENST00000400913.5:c.965A>C ENSP00000383704.1:p.Glu322Ala
ENST00000400915.7:c.1133A>C ENSP00000383706.3:p.Glu378Ala
ENST00000489097.5:n.1441A>C
ENST00000535355.5:c.1172A>C ENSP00000441445.1:p.Glu391Ala
ENST00000537245.5:c.1202A>C ENSP00000439625.1:p.Glu401Ala
NM_001042663.1:c.1133A>C NP_001036128.1:p.Glu378Ala
NM_001042664.1:c.965A>C NP_001036129.1:p.Glu322Ala
NM_001042665.1:c.965A>C NP_001036130.1:p.Glu322Ala
NM_001265592.1:c.1202A>C NP_001252521.1:p.Glu401Ala
NM_001265593.1:c.1172A>C NP_001252522.1:p.Glu391Ala
NM_001265594.1:c.965A>C NP_001252523.1:p.Glu322Ala
NM_020631.4:c.965A>C NP_065682.2:p.Glu322Ala
NM_198681.3:c.1196A>C NP_941374.2:p.Glu399Ala
NM_001042663.2:c.1133A>C NP_001036128.1:p.Glu378Ala
NM_001265594.2:c.965A>C NP_001252523.1:p.Glu322Ala
NM_020631.5:c.965A>C NP_065682.2:p.Glu322Ala
NM_001042663.3:c.1076A>C NP_001036128.2:p.Glu359Ala
NM_001265592.2:c.1076A>C NP_001252521.2:p.Glu359Ala
NM_020631.6:c.965A>C MANE Select NP_065682.2:p.Glu322Ala
NM_198681.4:c.965A>C NP_941374.3:p.Glu322Ala