Canonical Allele Identifier: CA415835523

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1307479143
• gnomAD v2: 1-6537626-A-G
• gnomAD v4: 1-6477566-A-G
• MyVariant Identifiers: chr1:g.6537626A>G (hg19) ; chr1:g.6477566A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477566A>G , CM000663.2:g.6477566A>G	GRCh38
NC_000001.10:g.6537626A>G , CM000663.1:g.6537626A>G	GRCh37
NC_000001.9:g.6460213A>G	NCBI36
NG_007978.1:g.47444T>C , LRG_262:g.47444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.6T>C	ENSP00000344570.5:p.His2=
ENST00000377728.8:c.6T>C MANE Select	ENSP00000366957.3:p.His2=
ENST00000377740.5:c.6T>C	ENSP00000366969.4:p.His2=
ENST00000377748.6:c.117T>C	ENSP00000366977.2:p.His39=
ENST00000400913.6:c.6T>C	ENSP00000383704.1:p.His2=
ENST00000400915.8:c.117T>C	ENSP00000383706.4:p.His39=
ENST00000489097.6:n.23T>C
ENST00000535355.6:c.213T>C	ENSP00000441445.1:p.His71=
ENST00000537245.6:c.117T>C	ENSP00000439625.2:p.His39=
ENST00000673471.2:c.303T>C	ENSP00000500749.1:p.His101=
ENST00000674790.1:c.*218T>C	ENSP00000502815.1:n.*218T>C
ENST00000674803.1:n.236T>C
ENST00000675093.1:c.6T>C	ENSP00000502687.1:p.His2=
ENST00000675123.1:c.6T>C	ENSP00000502132.1:p.His2=
ENST00000675548.1:c.191T>C	ENSP00000502684.1:p.Ile64Thr
ENST00000675655.1:n.212T>C
ENST00000675694.1:c.6T>C	ENSP00000501925.1:p.His2=
ENST00000676287.1:c.6T>C	ENSP00000502810.1:p.His2=
ENST00000676362.1:n.229T>C
ENST00000340850.9:c.6T>C	ENSP00000344570.5:p.His2=
ENST00000377725.5:c.6T>C	ENSP00000366954.1:p.His2=
ENST00000377728.7:c.6T>C	ENSP00000366957.3:p.His2=
ENST00000377732.5:c.117T>C	ENSP00000366961.1:p.His39=
ENST00000377740.4:c.237T>C	ENSP00000366969.3:p.His79=
ENST00000377748.5:c.237T>C	ENSP00000366977.1:p.His79=
ENST00000400913.5:c.6T>C	ENSP00000383704.1:p.His2=
ENST00000400915.7:c.174T>C	ENSP00000383706.3:p.His58=
ENST00000489097.5:n.23T>C
ENST00000535355.5:c.213T>C	ENSP00000441445.1:p.His71=
ENST00000537245.5:c.243T>C	ENSP00000439625.1:p.His81=
NM_001042663.1:c.174T>C	NP_001036128.1:p.His58=
NM_001042664.1:c.6T>C	NP_001036129.1:p.His2=
NM_001042665.1:c.6T>C	NP_001036130.1:p.His2=
NM_001265592.1:c.243T>C	NP_001252521.1:p.His81=
NM_001265593.1:c.213T>C	NP_001252522.1:p.His71=
NM_001265594.1:c.6T>C	NP_001252523.1:p.His2=
NM_020631.4:c.6T>C	NP_065682.2:p.His2=
NM_198681.3:c.237T>C	NP_941374.2:p.His79=
NM_001042663.2:c.174T>C	NP_001036128.1:p.His58=
NM_001265594.2:c.6T>C	NP_001252523.1:p.His2=
NM_020631.5:c.6T>C	NP_065682.2:p.His2=
NM_001042663.3:c.117T>C	NP_001036128.2:p.His39=
NM_001265592.2:c.117T>C	NP_001252521.2:p.His39=
NM_020631.6:c.6T>C MANE Select	NP_065682.2:p.His2=
NM_198681.4:c.6T>C	NP_941374.3:p.His2=