Canonical Allele Identifier: CA998186259

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644468406
• gnomAD v3: 1-6468613-C-T
• gnomAD v4: 1-6468613-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468613C>T , CM000663.2:g.6468613C>T	GRCh38
NC_000001.10:g.6528673C>T , CM000663.1:g.6528673C>T	GRCh37
NC_000001.9:g.6451260C>T	NCBI36
NG_007978.1:g.56397G>A , LRG_262:g.56397G>A
NG_029910.1:g.2583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2250-27G>A	ENSP00000344570.5:n.2250-27G>A
ENST00000377728.8:c.2250-27G>A MANE Select	ENSP00000366957.3:n.2250-27G>A
ENST00000377740.5:c.2250-27G>A	ENSP00000366969.4:n.2250-27G>A
ENST00000377748.6:c.2424-27G>A	ENSP00000366977.2:n.2424-27G>A
ENST00000400913.6:c.2250-27G>A	ENSP00000383704.1:n.2250-27G>A
ENST00000400915.8:c.2361-27G>A	ENSP00000383706.4:n.2361-27G>A
ENST00000489097.6:n.2726-27G>A
ENST00000535355.6:c.2457-27G>A	ENSP00000441445.1:n.2457-27G>A
ENST00000537245.6:c.2361-27G>A	ENSP00000439625.2:n.2361-27G>A
ENST00000673471.2:c.2547-27G>A	ENSP00000500749.1:n.2547-27G>A
ENST00000674790.1:c.*2462-27G>A	ENSP00000502815.1:n.*2462-27G>A
ENST00000675123.1:c.2249+429G>A	ENSP00000502132.1:n.2249+429G>A
ENST00000675548.1:c.*2078-27G>A	ENSP00000502684.1:n.*2078-27G>A
ENST00000675694.1:c.2250-27G>A	ENSP00000501925.1:n.2250-27G>A
ENST00000675976.1:c.123-27G>A	ENSP00000501611.1:n.123-27G>A
ENST00000340850.9:c.2250-27G>A	ENSP00000344570.5:n.2250-27G>A
ENST00000377725.5:c.2250-27G>A	ENSP00000366954.1:n.2250-27G>A
ENST00000377728.7:c.2250-27G>A	ENSP00000366957.3:n.2250-27G>A
ENST00000377732.5:c.2361-27G>A	ENSP00000366961.1:n.2361-27G>A
ENST00000377740.4:c.2480+429G>A	ENSP00000366969.3:n.2480+429G>A
ENST00000377748.5:c.2481-27G>A	ENSP00000366977.1:n.2481-27G>A
ENST00000400913.5:c.2250-27G>A	ENSP00000383704.1:n.2250-27G>A
ENST00000400915.7:c.2418-27G>A	ENSP00000383706.3:n.2418-27G>A
ENST00000487949.4:n.1452-27G>A
ENST00000489097.5:n.2726-27G>A
ENST00000535355.5:c.2457-27G>A	ENSP00000441445.1:n.2457-27G>A
ENST00000537245.5:c.2487-27G>A	ENSP00000439625.1:n.2487-27G>A
NM_001042663.1:c.2418-27G>A	NP_001036128.1:n.2418-27G>A
NM_001042664.1:c.2250-27G>A	NP_001036129.1:n.2250-27G>A
NM_001042665.1:c.2250-27G>A	NP_001036130.1:n.2250-27G>A
NM_001265592.1:c.2487-27G>A	NP_001252521.1:n.2487-27G>A
NM_001265593.1:c.2457-27G>A	NP_001252522.1:n.2457-27G>A
NM_001265594.1:c.2250-27G>A	NP_001252523.1:n.2250-27G>A
NM_020631.4:c.2250-27G>A	NP_065682.2:n.2250-27G>A
NM_198681.3:c.2481-27G>A	NP_941374.2:n.2481-27G>A
NM_001042663.2:c.2418-27G>A	NP_001036128.1:n.2418-27G>A
NM_001265594.2:c.2250-27G>A	NP_001252523.1:n.2250-27G>A
NM_020631.5:c.2250-27G>A	NP_065682.2:n.2250-27G>A
NM_001042663.3:c.2361-27G>A	NP_001036128.2:n.2361-27G>A
NM_001265592.2:c.2361-27G>A	NP_001252521.2:n.2361-27G>A
NM_020631.6:c.2250-27G>A MANE Select	NP_065682.2:n.2250-27G>A
NM_198681.4:c.2250-27G>A	NP_941374.3:n.2250-27G>A