Canonical Allele Identifier: CA414333095

Gene: PLS3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115629307G>A , CM000685.2:g.115629307G>A	GRCh38
NC_000023.10:g.114863619G>A , CM000685.1:g.114863619G>A	GRCh37
NC_000023.9:g.114769875G>A	NCBI36
NG_012518.2:g.73429G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005032.7:c.347G>A MANE Select	NP_005023.2:p.Gly116Glu
ENST00000355899.8:c.347G>A MANE Select	ENSP00000348163.3:p.Gly116Glu
NM_001136025.4:c.347G>A	NP_001129497.1:p.Gly116Glu
NM_001136025.5:c.347G>A	NP_001129497.1:p.Gly116Glu
NM_001172335.2:c.266G>A	NP_001165806.1:p.Gly89Glu
NM_001172335.3:c.266G>A	NP_001165806.1:p.Gly89Glu
NM_001282337.1:c.281G>A	NP_001269266.1:p.Gly94Glu
NM_001282337.2:c.281G>A	NP_001269266.1:p.Gly94Glu
NM_001282338.1:c.212G>A	NP_001269267.1:p.Gly71Glu
NM_001282338.2:c.212G>A	NP_001269267.1:p.Gly71Glu
NM_005032.6:c.347G>A	NP_005023.2:p.Gly116Glu
ENST00000289290.7:c.281G>A	ENSP00000289290.4:p.Gly94Glu
ENST00000355899.7:c.347G>A	ENSP00000348163.3:p.Gly116Glu
ENST00000420625.6:c.281G>A	ENSP00000398945.3:p.Gly94Glu
ENST00000473026.6:c.278-528G>A	ENSP00000475900.1:n.278-528G>A
ENST00000481823.5:c.*600G>A	ENSP00000419051.1:n.*600G>A
ENST00000489283.5:c.*600G>A	ENSP00000420458.1:n.*600G>A
ENST00000539310.5:c.347G>A	ENSP00000445339.2:p.Gly116Glu
XM_011537534.1:c.347G>A	XP_011535836.1:p.Gly116Glu