Canonical Allele Identifier: CA561565
Gene: PLEKHG5 HGNC NCBI

Linked Data

dbSNP Id: rs563286516
gnomAD v2: 1-6531157-C-T
gnomAD v3: 1-6471097-C-T
gnomAD v4: 1-6471097-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6471097C>T , CM000663.2:g.6471097C>T GRCh38
NC_000001.10:g.6531157C>T , CM000663.1:g.6531157C>T GRCh37
NC_000001.9:g.6453744C>T NCBI36
NG_007978.1:g.53913G>A , LRG_262:g.53913G>A
NG_029910.1:g.99G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.1285G>A ENSP00000344570.5:p.Gly429Ser
ENST00000377728.8:c.1285G>A MANE Select ENSP00000366957.3:p.Gly429Ser
ENST00000377740.5:c.1285G>A ENSP00000366969.4:p.Gly429Ser
ENST00000377748.6:c.1459G>A ENSP00000366977.2:p.Gly487Ser
ENST00000400913.6:c.1285G>A ENSP00000383704.1:p.Gly429Ser
ENST00000400915.8:c.1396G>A ENSP00000383706.4:p.Gly466Ser
ENST00000489097.6:n.1761G>A
ENST00000535355.6:c.1492G>A ENSP00000441445.1:p.Gly498Ser
ENST00000537245.6:c.1396G>A ENSP00000439625.2:p.Gly466Ser
ENST00000673471.2:c.1582G>A ENSP00000500749.1:p.Gly528Ser
ENST00000674685.1:n.318G>A
ENST00000674790.1:c.*1497G>A ENSP00000502815.1:n.*1497G>A
ENST00000675123.1:c.1285G>A ENSP00000502132.1:p.Gly429Ser
ENST00000675548.1:c.*1113G>A ENSP00000502684.1:n.*1113G>A
ENST00000675694.1:c.1285G>A ENSP00000501925.1:p.Gly429Ser
ENST00000340850.9:c.1285G>A ENSP00000344570.5:p.Gly429Ser
ENST00000377725.5:c.1285G>A ENSP00000366954.1:p.Gly429Ser
ENST00000377728.7:c.1285G>A ENSP00000366957.3:p.Gly429Ser
ENST00000377732.5:c.1396G>A ENSP00000366961.1:p.Gly466Ser
ENST00000377740.4:c.1516G>A ENSP00000366969.3:p.Gly506Ser
ENST00000377748.5:c.1516G>A ENSP00000366977.1:p.Gly506Ser
ENST00000400913.5:c.1285G>A ENSP00000383704.1:p.Gly429Ser
ENST00000400915.7:c.1453G>A ENSP00000383706.3:p.Gly485Ser
ENST00000487949.4:n.487G>A
ENST00000489097.5:n.1761G>A
ENST00000535355.5:c.1492G>A ENSP00000441445.1:p.Gly498Ser
ENST00000537245.5:c.1522G>A ENSP00000439625.1:p.Gly508Ser
NM_001042663.1:c.1453G>A NP_001036128.1:p.Gly485Ser
NM_001042664.1:c.1285G>A NP_001036129.1:p.Gly429Ser
NM_001042665.1:c.1285G>A NP_001036130.1:p.Gly429Ser
NM_001265592.1:c.1522G>A NP_001252521.1:p.Gly508Ser
NM_001265593.1:c.1492G>A NP_001252522.1:p.Gly498Ser
NM_001265594.1:c.1285G>A NP_001252523.1:p.Gly429Ser
NM_020631.4:c.1285G>A NP_065682.2:p.Gly429Ser
NM_198681.3:c.1516G>A NP_941374.2:p.Gly506Ser
NM_001042663.2:c.1453G>A NP_001036128.1:p.Gly485Ser
NM_001265594.2:c.1285G>A NP_001252523.1:p.Gly429Ser
NM_020631.5:c.1285G>A NP_065682.2:p.Gly429Ser
NM_001042663.3:c.1396G>A NP_001036128.2:p.Gly466Ser
NM_001265592.2:c.1396G>A NP_001252521.2:p.Gly466Ser
NM_020631.6:c.1285G>A MANE Select NP_065682.2:p.Gly429Ser
NM_198681.4:c.1285G>A NP_941374.3:p.Gly429Ser