Canonical Allele Identifier: CA334698753

Gene: PLS3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115645801T>C , CM000685.2:g.115645801T>C	GRCh38
NC_000023.10:g.114880121T>C , CM000685.1:g.114880121T>C	GRCh37
NC_000023.9:g.114786377T>C	NCBI36
NG_012518.2:g.89923T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005032.7:c.1263-271T>C MANE Select	NP_005023.2:n.1263-271T>C
ENST00000355899.8:c.1263-271T>C MANE Select	ENSP00000348163.3:n.1263-271T>C
NM_001136025.4:c.1263-271T>C	NP_001129497.1:n.1263-271T>C
NM_001136025.5:c.1263-271T>C	NP_001129497.1:n.1263-271T>C
NM_001172335.2:c.1182-271T>C	NP_001165806.1:n.1182-271T>C
NM_001172335.3:c.1182-271T>C	NP_001165806.1:n.1182-271T>C
NM_001282337.1:c.1224-271T>C	NP_001269266.1:n.1224-271T>C
NM_001282337.2:c.1224-271T>C	NP_001269266.1:n.1224-271T>C
NM_001282338.1:c.1128-271T>C	NP_001269267.1:n.1128-271T>C
NM_001282338.2:c.1128-271T>C	NP_001269267.1:n.1128-271T>C
NM_005032.6:c.1263-271T>C	NP_005023.2:n.1263-271T>C
ENST00000289290.7:c.1224-271T>C	ENSP00000289290.4:n.1224-271T>C
ENST00000355899.7:c.1263-271T>C	ENSP00000348163.3:n.1263-271T>C
ENST00000420625.6:c.1224-271T>C	ENSP00000398945.3:n.1224-271T>C
ENST00000466150.1:n.476-271T>C
ENST00000481823.5:c.*1516-271T>C	ENSP00000419051.1:n.*1516-271T>C
ENST00000497870.1:c.424-271T>C
ENST00000539310.5:c.1263-271T>C	ENSP00000445339.2:n.1263-271T>C
XM_011537534.1:c.1263-271T>C	XP_011535836.1:n.1263-271T>C