Canonical Allele Identifier: CA561638
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 536785
ClinVar RCV Id: RCV000645445
dbSNP Id: rs772519809
gnomAD v2: 1-6531871-G-A
gnomAD v3: 1-6471811-G-A
gnomAD v4: 1-6471811-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6471811G>A , CM000663.2:g.6471811G>A GRCh38
NC_000001.10:g.6531871G>A , CM000663.1:g.6531871G>A GRCh37
NC_000001.9:g.6454458G>A NCBI36
NG_007978.1:g.53199C>T , LRG_262:g.53199C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.1081-3C>T ENSP00000344570.5:n.1081-3C>T
ENST00000377728.8:c.1081-3C>T MANE Select ENSP00000366957.3:n.1081-3C>T
ENST00000377740.5:c.1081-3C>T ENSP00000366969.4:n.1081-3C>T
ENST00000377748.6:c.1255-3C>T ENSP00000366977.2:n.1255-3C>T
ENST00000400913.6:c.1081-3C>T ENSP00000383704.1:n.1081-3C>T
ENST00000400915.8:c.1192-3C>T ENSP00000383706.4:n.1192-3C>T
ENST00000489097.6:n.1557-3C>T
ENST00000535355.6:c.1288-3C>T ENSP00000441445.1:n.1288-3C>T
ENST00000537245.6:c.1192-3C>T ENSP00000439625.2:n.1192-3C>T
ENST00000673471.2:c.1378-3C>T ENSP00000500749.1:n.1378-3C>T
ENST00000674685.1:n.114-3C>T
ENST00000674790.1:c.*1293-3C>T ENSP00000502815.1:n.*1293-3C>T
ENST00000675123.1:c.1081-3C>T ENSP00000502132.1:n.1081-3C>T
ENST00000675548.1:c.*909-3C>T ENSP00000502684.1:n.*909-3C>T
ENST00000675694.1:c.1081-3C>T ENSP00000501925.1:n.1081-3C>T
ENST00000340850.9:c.1081-3C>T ENSP00000344570.5:n.1081-3C>T
ENST00000377725.5:c.1081-3C>T ENSP00000366954.1:n.1081-3C>T
ENST00000377728.7:c.1081-3C>T ENSP00000366957.3:n.1081-3C>T
ENST00000377732.5:c.1192-3C>T ENSP00000366961.1:n.1192-3C>T
ENST00000377740.4:c.1312-3C>T ENSP00000366969.3:n.1312-3C>T
ENST00000377748.5:c.1312-3C>T ENSP00000366977.1:n.1312-3C>T
ENST00000400913.5:c.1081-3C>T ENSP00000383704.1:n.1081-3C>T
ENST00000400915.7:c.1249-3C>T ENSP00000383706.3:n.1249-3C>T
ENST00000489097.5:n.1557-3C>T
ENST00000535355.5:c.1288-3C>T ENSP00000441445.1:n.1288-3C>T
ENST00000537245.5:c.1318-3C>T ENSP00000439625.1:n.1318-3C>T
NM_001042663.1:c.1249-3C>T NP_001036128.1:n.1249-3C>T
NM_001042664.1:c.1081-3C>T NP_001036129.1:n.1081-3C>T
NM_001042665.1:c.1081-3C>T NP_001036130.1:n.1081-3C>T
NM_001265592.1:c.1318-3C>T NP_001252521.1:n.1318-3C>T
NM_001265593.1:c.1288-3C>T NP_001252522.1:n.1288-3C>T
NM_001265594.1:c.1081-3C>T NP_001252523.1:n.1081-3C>T
NM_020631.4:c.1081-3C>T NP_065682.2:n.1081-3C>T
NM_198681.3:c.1312-3C>T NP_941374.2:n.1312-3C>T
NM_001042663.2:c.1249-3C>T NP_001036128.1:n.1249-3C>T
NM_001265594.2:c.1081-3C>T NP_001252523.1:n.1081-3C>T
NM_020631.5:c.1081-3C>T NP_065682.2:n.1081-3C>T
NM_001042663.3:c.1192-3C>T NP_001036128.2:n.1192-3C>T
NM_001265592.2:c.1192-3C>T NP_001252521.2:n.1192-3C>T
NM_020631.6:c.1081-3C>T MANE Select NP_065682.2:n.1081-3C>T
NM_198681.4:c.1081-3C>T NP_941374.3:n.1081-3C>T