Canonical Allele Identifier: CA10497057

Gene: PLS3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115646190G>A , CM000685.2:g.115646190G>A	GRCh38
NC_000023.10:g.114880510G>A , CM000685.1:g.114880510G>A	GRCh37
NC_000023.9:g.114786766G>A	NCBI36
NG_012518.2:g.90312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355899.8:c.1377+4G>A MANE Select	ENSP00000348163.3:n.1377+4G>A
ENST00000289290.7:c.1338+4G>A	ENSP00000289290.4:n.1338+4G>A
ENST00000355899.7:c.1377+4G>A	ENSP00000348163.3:n.1377+4G>A
ENST00000420625.6:c.1338+4G>A	ENSP00000398945.3:n.1338+4G>A
ENST00000481823.5:c.*1630+4G>A	ENSP00000419051.1:n.*1630+4G>A
ENST00000497870.1:c.538+4G>A
ENST00000539310.5:c.1377+4G>A	ENSP00000445339.2:n.1377+4G>A
NM_001136025.4:c.1377+4G>A	NP_001129497.1:n.1377+4G>A
NM_001172335.2:c.1296+4G>A	NP_001165806.1:n.1296+4G>A
NM_001282337.1:c.1338+4G>A	NP_001269266.1:n.1338+4G>A
NM_001282338.1:c.1242+4G>A	NP_001269267.1:n.1242+4G>A
NM_005032.6:c.1377+4G>A	NP_005023.2:n.1377+4G>A
XM_011537534.1:c.1377+4G>A	XP_011535836.1:n.1377+4G>A
NM_005032.7:c.1377+4G>A MANE Select	NP_005023.2:n.1377+4G>A
NM_001136025.5:c.1377+4G>A	NP_001129497.1:n.1377+4G>A
NM_001172335.3:c.1296+4G>A	NP_001165806.1:n.1296+4G>A
NM_001282337.2:c.1338+4G>A	NP_001269266.1:n.1338+4G>A
NM_001282338.2:c.1242+4G>A	NP_001269267.1:n.1242+4G>A