Canonical Allele Identifier: CA10610644

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 297910
• ClinVar RCV Id: RCV000263899
• dbSNP Id: rs45604837
• gnomAD v2: 1-6526319-C-T
• gnomAD v3: 1-6466259-C-T
• gnomAD v4: 1-6466259-C-T
• MyVariant Identifiers: chr1:g.6526319C>T (hg19) ; chr1:g.6466259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6466259C>T , CM000663.2:g.6466259C>T	GRCh38
NC_000001.10:g.6526319C>T , CM000663.1:g.6526319C>T	GRCh37
NC_000001.9:g.6448906C>T	NCBI36
NG_007978.1:g.58751G>A , LRG_262:g.58751G>A
NG_029910.1:g.4937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.9:c.*1304G>A	ENSP00000344570.5:n.*1304G>A
ENST00000377748.5:c.*1304G>A	ENSP00000366977.1:n.*1304G>A
ENST00000400913.5:c.*1304G>A	ENSP00000383704.1:n.*1304G>A
ENST00000489097.5:n.4801G>A
ENST00000535355.5:c.*1304G>A	ENSP00000441445.1:n.*1304G>A
ENST00000537245.5:c.*1304G>A	ENSP00000439625.1:n.*1304G>A
NM_001042663.1:c.*1304G>A	NP_001036128.1:n.*1304G>A
NM_001042664.1:c.*1304G>A	NP_001036129.1:n.*1304G>A
NM_001042665.1:c.*1304G>A	NP_001036130.1:n.*1304G>A
NM_001265592.1:c.*1304G>A	NP_001252521.1:n.*1304G>A
NM_001265593.1:c.*1304G>A	NP_001252522.1:n.*1304G>A
NM_001265594.1:c.*1332G>A	NP_001252523.1:n.*1332G>A
NM_020631.4:c.*1304G>A	NP_065682.2:n.*1304G>A
NM_198681.3:c.*1304G>A	NP_941374.2:n.*1304G>A
NM_001042663.2:c.*1304G>A	NP_001036128.1:n.*1304G>A
NM_001265594.2:c.*1332G>A	NP_001252523.1:n.*1332G>A
NM_020631.5:c.*1304G>A	NP_065682.2:n.*1304G>A