Canonical Allele Identifier: CA2838245066

Gene: PLEKHG3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64704999C>T , CM000676.2:g.64704999C>T	GRCh38
NC_000014.8:g.65171717C>T , CM000676.1:g.65171717C>T	GRCh37
NC_000014.7:g.64241470C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394691.7:c.-40+295C>T	ENSP00000378183.2:n.-40+295C>T
ENST00000247226.13:c.-40+295C>T MANE Select	ENSP00000247226.8:n.-40+295C>T
ENST00000247226.12:c.-40+295C>T	ENSP00000247226.8:n.-40+295C>T
ENST00000394691.6:c.-40+295C>T	ENSP00000378183.2:n.-40+295C>T
ENST00000555982.5:c.-40+868C>T	ENSP00000450501.1:n.-40+868C>T
ENST00000634379.1:c.-40+295C>T	ENSP00000489373.1:n.-40+295C>T
NM_001308147.1:c.-40+295C>T	NP_001295076.1:n.-40+295C>T
NM_015549.1:c.-40+295C>T	NP_056364.1:n.-40+295C>T
XM_011536628.1:c.-40+295C>T	XP_011534930.1:n.-40+295C>T
XM_011536628.3:c.-40+295C>T	XP_011534930.1:n.-40+295C>T
NM_001308147.2:c.-40+295C>T MANE Select	NP_001295076.1:n.-40+295C>T