Canonical Allele Identifier: CA145305

Gene: PLS3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115646495C>T , CM000685.2:g.115646495C>T	GRCh38
NC_000023.10:g.114880815C>T , CM000685.1:g.114880815C>T	GRCh37
NC_000023.9:g.114787071C>T	NCBI36
NG_012518.2:g.90617C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005032.7:c.1471C>T MANE Select	NP_005023.2:p.Gln491Ter
ENST00000355899.8:c.1471C>T MANE Select	ENSP00000348163.3:p.Gln491Ter
NM_001136025.4:c.1471C>T	NP_001129497.1:p.Gln491Ter
NM_001136025.5:c.1471C>T	NP_001129497.1:p.Gln491Ter
NM_001172335.2:c.1390C>T	NP_001165806.1:p.Gln464Ter
NM_001172335.3:c.1390C>T	NP_001165806.1:p.Gln464Ter
NM_001282337.1:c.1432C>T	NP_001269266.1:p.Gln478Ter
NM_001282337.2:c.1432C>T	NP_001269266.1:p.Gln478Ter
NM_001282338.1:c.1336C>T	NP_001269267.1:p.Gln446Ter
NM_001282338.2:c.1336C>T	NP_001269267.1:p.Gln446Ter
NM_005032.6:c.1471C>T	NP_005023.2:p.Gln491Ter
ENST00000289290.7:c.1432C>T	ENSP00000289290.4:p.Gln478Ter
ENST00000355899.7:c.1471C>T	ENSP00000348163.3:p.Gln491Ter
ENST00000420625.6:c.1432C>T	ENSP00000398945.3:p.Gln478Ter
ENST00000481823.5:c.*1724C>T	ENSP00000419051.1:n.*1724C>T
ENST00000539310.5:c.1471C>T	ENSP00000445339.2:p.Gln491Ter
XM_011537534.1:c.1471C>T	XP_011535836.1:p.Gln491Ter