Canonical Allele Identifier: CA334698120

Gene: PLS3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115635176G>A , CM000685.2:g.115635176G>A	GRCh38
NC_000023.10:g.114869488G>A , CM000685.1:g.114869488G>A	GRCh37
NC_000023.9:g.114775744G>A	NCBI36
NG_012518.2:g.79298G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005032.7:c.748+130G>A MANE Select	NP_005023.2:n.748+130G>A
ENST00000355899.8:c.748+130G>A MANE Select	ENSP00000348163.3:n.748+130G>A
NM_001136025.4:c.748+130G>A	NP_001129497.1:n.748+130G>A
NM_001136025.5:c.748+130G>A	NP_001129497.1:n.748+130G>A
NM_001172335.2:c.667+130G>A	NP_001165806.1:n.667+130G>A
NM_001172335.3:c.667+130G>A	NP_001165806.1:n.667+130G>A
NM_001282337.1:c.682+130G>A	NP_001269266.1:n.682+130G>A
NM_001282337.2:c.682+130G>A	NP_001269266.1:n.682+130G>A
NM_001282338.1:c.613+130G>A	NP_001269267.1:n.613+130G>A
NM_001282338.2:c.613+130G>A	NP_001269267.1:n.613+130G>A
NM_005032.6:c.748+130G>A	NP_005023.2:n.748+130G>A
ENST00000289290.7:c.682+130G>A	ENSP00000289290.4:n.682+130G>A
ENST00000355899.7:c.748+130G>A	ENSP00000348163.3:n.748+130G>A
ENST00000420625.6:c.682+130G>A	ENSP00000398945.3:n.682+130G>A
ENST00000481823.5:c.*1001+130G>A	ENSP00000419051.1:n.*1001+130G>A
ENST00000539310.5:c.748+130G>A	ENSP00000445339.2:n.748+130G>A
XM_011537534.1:c.748+130G>A	XP_011535836.1:n.748+130G>A