Canonical Allele Identifier: CA414335336

Gene: PLS3

Linked Data

• ClinVar Variation Id: 2119651
• ClinVar RCV Id: RCV003054762
• gnomAD v4: X-115643494-G-A
• MyVariant Identifiers: chrX:g.114877806G>A (hg19) ; chrX:g.115643494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115643494G>A , CM000685.2:g.115643494G>A	GRCh38
NC_000023.10:g.114877806G>A , CM000685.1:g.114877806G>A	GRCh37
NC_000023.9:g.114784062G>A	NCBI36
NG_012518.2:g.87616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355899.8:c.1169G>A MANE Select	ENSP00000348163.3:p.Trp390Ter
ENST00000289290.7:c.1130G>A	ENSP00000289290.4:p.Trp377Ter
ENST00000355899.7:c.1169G>A	ENSP00000348163.3:p.Trp390Ter
ENST00000420625.6:c.1130G>A	ENSP00000398945.3:p.Trp377Ter
ENST00000466150.1:n.382G>A
ENST00000481823.5:c.*1422G>A	ENSP00000419051.1:n.*1422G>A
ENST00000497870.1:c.330G>A
ENST00000539310.5:c.1169G>A	ENSP00000445339.2:p.Trp390Ter
NM_001136025.4:c.1169G>A	NP_001129497.1:p.Trp390Ter
NM_001172335.2:c.1088G>A	NP_001165806.1:p.Trp363Ter
NM_001282337.1:c.1130G>A	NP_001269266.1:p.Trp377Ter
NM_001282338.1:c.1034G>A	NP_001269267.1:p.Trp345Ter
NM_005032.6:c.1169G>A	NP_005023.2:p.Trp390Ter
XM_011537534.1:c.1169G>A	XP_011535836.1:p.Trp390Ter
NM_005032.7:c.1169G>A MANE Select	NP_005023.2:p.Trp390Ter
NM_001136025.5:c.1169G>A	NP_001129497.1:p.Trp390Ter
NM_001172335.3:c.1088G>A	NP_001165806.1:p.Trp363Ter
NM_001282337.2:c.1130G>A	NP_001269266.1:p.Trp377Ter
NM_001282338.2:c.1034G>A	NP_001269267.1:p.Trp345Ter