Canonical Allele Identifier: CA998178930

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs905865148
• gnomAD v3: 1-6474387-G-T
• gnomAD v4: 1-6474387-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474387G>T , CM000663.2:g.6474387G>T	GRCh38
NC_000001.10:g.6534447G>T , CM000663.1:g.6534447G>T	GRCh37
NC_000001.9:g.6457034G>T	NCBI36
NG_007978.1:g.50623C>A , LRG_262:g.50623C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.439+64C>A	ENSP00000344570.5:n.439+64C>A
ENST00000377728.8:c.439+64C>A MANE Select	ENSP00000366957.3:n.439+64C>A
ENST00000377740.5:c.439+64C>A	ENSP00000366969.4:n.439+64C>A
ENST00000377748.6:c.613+64C>A	ENSP00000366977.2:n.613+64C>A
ENST00000400913.6:c.439+64C>A	ENSP00000383704.1:n.439+64C>A
ENST00000400915.8:c.550+64C>A	ENSP00000383706.4:n.550+64C>A
ENST00000489097.6:n.915+64C>A
ENST00000535355.6:c.646+64C>A	ENSP00000441445.1:n.646+64C>A
ENST00000537245.6:c.550+64C>A	ENSP00000439625.2:n.550+64C>A
ENST00000673471.2:c.736+64C>A	ENSP00000500749.1:n.736+64C>A
ENST00000674790.1:c.*651+64C>A	ENSP00000502815.1:n.*651+64C>A
ENST00000675123.1:c.439+64C>A	ENSP00000502132.1:n.439+64C>A
ENST00000675548.1:c.*267+64C>A	ENSP00000502684.1:n.*267+64C>A
ENST00000675694.1:c.439+64C>A	ENSP00000501925.1:n.439+64C>A
ENST00000340850.9:c.439+64C>A	ENSP00000344570.5:n.439+64C>A
ENST00000377725.5:c.439+64C>A	ENSP00000366954.1:n.439+64C>A
ENST00000377728.7:c.439+64C>A	ENSP00000366957.3:n.439+64C>A
ENST00000377732.5:c.550+64C>A	ENSP00000366961.1:n.550+64C>A
ENST00000377740.4:c.670+64C>A	ENSP00000366969.3:n.670+64C>A
ENST00000377748.5:c.670+64C>A	ENSP00000366977.1:n.670+64C>A
ENST00000400913.5:c.439+64C>A	ENSP00000383704.1:n.439+64C>A
ENST00000400915.7:c.607+64C>A	ENSP00000383706.3:n.607+64C>A
ENST00000489097.5:n.915+64C>A
ENST00000535355.5:c.646+64C>A	ENSP00000441445.1:n.646+64C>A
ENST00000537245.5:c.676+64C>A	ENSP00000439625.1:n.676+64C>A
NM_001042663.1:c.607+64C>A	NP_001036128.1:n.607+64C>A
NM_001042664.1:c.439+64C>A	NP_001036129.1:n.439+64C>A
NM_001042665.1:c.439+64C>A	NP_001036130.1:n.439+64C>A
NM_001265592.1:c.676+64C>A	NP_001252521.1:n.676+64C>A
NM_001265593.1:c.646+64C>A	NP_001252522.1:n.646+64C>A
NM_001265594.1:c.439+64C>A	NP_001252523.1:n.439+64C>A
NM_020631.4:c.439+64C>A	NP_065682.2:n.439+64C>A
NM_198681.3:c.670+64C>A	NP_941374.2:n.670+64C>A
NM_001042663.2:c.607+64C>A	NP_001036128.1:n.607+64C>A
NM_001265594.2:c.439+64C>A	NP_001252523.1:n.439+64C>A
NM_020631.5:c.439+64C>A	NP_065682.2:n.439+64C>A
NM_001042663.3:c.550+64C>A	NP_001036128.2:n.550+64C>A
NM_001265592.2:c.550+64C>A	NP_001252521.2:n.550+64C>A
NM_020631.6:c.439+64C>A MANE Select	NP_065682.2:n.439+64C>A
NM_198681.4:c.439+64C>A	NP_941374.3:n.439+64C>A