Canonical Allele Identifier: CA10497076
Gene: PLS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.115646500C>G , CM000685.2:g.115646500C>G GRCh38
NC_000023.10:g.114880820C>G , CM000685.1:g.114880820C>G GRCh37
NC_000023.9:g.114787076C>G NCBI36
NG_012518.2:g.90622C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355899.8:c.1476C>G MANE Select ENSP00000348163.3:p.Thr492=
ENST00000289290.7:c.1437C>G ENSP00000289290.4:p.Thr479=
ENST00000355899.7:c.1476C>G ENSP00000348163.3:p.Thr492=
ENST00000420625.6:c.1437C>G ENSP00000398945.3:p.Thr479=
ENST00000481823.5:c.*1729C>G ENSP00000419051.1:n.*1729C>G
ENST00000539310.5:c.1476C>G ENSP00000445339.2:p.Thr492=
NM_001136025.4:c.1476C>G NP_001129497.1:p.Thr492=
NM_001172335.2:c.1395C>G NP_001165806.1:p.Thr465=
NM_001282337.1:c.1437C>G NP_001269266.1:p.Thr479=
NM_001282338.1:c.1341C>G NP_001269267.1:p.Thr447=
NM_005032.6:c.1476C>G NP_005023.2:p.Thr492=
XM_011537534.1:c.1476C>G XP_011535836.1:p.Thr492=
NM_005032.7:c.1476C>G MANE Select NP_005023.2:p.Thr492=
NM_001136025.5:c.1476C>G NP_001129497.1:p.Thr492=
NM_001172335.3:c.1395C>G NP_001165806.1:p.Thr465=
NM_001282337.2:c.1437C>G NP_001269266.1:p.Thr479=
NM_001282338.2:c.1341C>G NP_001269267.1:p.Thr447=