Canonical Allele Identifier: CA2568954038

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6473764A>G , CM000663.2:g.6473764A>G	GRCh38
NC_000001.10:g.6533824A>G , CM000663.1:g.6533824A>G	GRCh37
NC_000001.9:g.6456411A>G	NCBI36
NG_007978.1:g.51246T>C , LRG_262:g.51246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.591+249T>C	ENSP00000344570.5:n.591+249T>C
ENST00000377728.8:c.591+249T>C MANE Select	ENSP00000366957.3:n.591+249T>C
ENST00000377740.5:c.591+249T>C	ENSP00000366969.4:n.591+249T>C
ENST00000377748.6:c.765+249T>C	ENSP00000366977.2:n.765+249T>C
ENST00000400913.6:c.591+249T>C	ENSP00000383704.1:n.591+249T>C
ENST00000400915.8:c.702+249T>C	ENSP00000383706.4:n.702+249T>C
ENST00000489097.6:n.1067+249T>C
ENST00000535355.6:c.798+249T>C	ENSP00000441445.1:n.798+249T>C
ENST00000537245.6:c.702+249T>C	ENSP00000439625.2:n.702+249T>C
ENST00000673471.2:c.888+249T>C	ENSP00000500749.1:n.888+249T>C
ENST00000674790.1:c.*803+249T>C	ENSP00000502815.1:n.*803+249T>C
ENST00000675123.1:c.591+249T>C	ENSP00000502132.1:n.591+249T>C
ENST00000675548.1:c.*419+249T>C	ENSP00000502684.1:n.*419+249T>C
ENST00000675694.1:c.591+249T>C	ENSP00000501925.1:n.591+249T>C
ENST00000340850.9:c.591+249T>C	ENSP00000344570.5:n.591+249T>C
ENST00000377725.5:c.591+249T>C	ENSP00000366954.1:n.591+249T>C
ENST00000377728.7:c.591+249T>C	ENSP00000366957.3:n.591+249T>C
ENST00000377732.5:c.702+249T>C	ENSP00000366961.1:n.702+249T>C
ENST00000377740.4:c.822+249T>C	ENSP00000366969.3:n.822+249T>C
ENST00000377748.5:c.822+249T>C	ENSP00000366977.1:n.822+249T>C
ENST00000400913.5:c.591+249T>C	ENSP00000383704.1:n.591+249T>C
ENST00000400915.7:c.759+249T>C	ENSP00000383706.3:n.759+249T>C
ENST00000489097.5:n.1067+249T>C
ENST00000535355.5:c.798+249T>C	ENSP00000441445.1:n.798+249T>C
ENST00000537245.5:c.828+249T>C	ENSP00000439625.1:n.828+249T>C
NM_001042663.1:c.759+249T>C	NP_001036128.1:n.759+249T>C
NM_001042664.1:c.591+249T>C	NP_001036129.1:n.591+249T>C
NM_001042665.1:c.591+249T>C	NP_001036130.1:n.591+249T>C
NM_001265592.1:c.828+249T>C	NP_001252521.1:n.828+249T>C
NM_001265593.1:c.798+249T>C	NP_001252522.1:n.798+249T>C
NM_001265594.1:c.591+249T>C	NP_001252523.1:n.591+249T>C
NM_020631.4:c.591+249T>C	NP_065682.2:n.591+249T>C
NM_198681.3:c.822+249T>C	NP_941374.2:n.822+249T>C
NM_001042663.2:c.759+249T>C	NP_001036128.1:n.759+249T>C
NM_001265594.2:c.591+249T>C	NP_001252523.1:n.591+249T>C
NM_020631.5:c.591+249T>C	NP_065682.2:n.591+249T>C
NM_001042663.3:c.702+249T>C	NP_001036128.2:n.702+249T>C
NM_001265592.2:c.702+249T>C	NP_001252521.2:n.702+249T>C
NM_020631.6:c.591+249T>C MANE Select	NP_065682.2:n.591+249T>C
NM_198681.4:c.591+249T>C	NP_941374.3:n.591+249T>C