Canonical Allele Identifier: CA414333942

Gene: PLS3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.115634915C>T , CM000685.2:g.115634915C>T	GRCh38
NC_000023.10:g.114869227C>T , CM000685.1:g.114869227C>T	GRCh37
NC_000023.9:g.114775483C>T	NCBI36
NG_012518.2:g.79037C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005032.7:c.617C>T MANE Select	NP_005023.2:p.Ala206Val
ENST00000355899.8:c.617C>T MANE Select	ENSP00000348163.3:p.Ala206Val
NM_001136025.4:c.617C>T	NP_001129497.1:p.Ala206Val
NM_001136025.5:c.617C>T	NP_001129497.1:p.Ala206Val
NM_001172335.2:c.536C>T	NP_001165806.1:p.Ala179Val
NM_001172335.3:c.536C>T	NP_001165806.1:p.Ala179Val
NM_001282337.1:c.551C>T	NP_001269266.1:p.Ala184Val
NM_001282337.2:c.551C>T	NP_001269266.1:p.Ala184Val
NM_001282338.1:c.482C>T	NP_001269267.1:p.Ala161Val
NM_001282338.2:c.482C>T	NP_001269267.1:p.Ala161Val
NM_005032.6:c.617C>T	NP_005023.2:p.Ala206Val
ENST00000289290.7:c.551C>T	ENSP00000289290.4:p.Ala184Val
ENST00000355899.7:c.617C>T	ENSP00000348163.3:p.Ala206Val
ENST00000420625.6:c.551C>T	ENSP00000398945.3:p.Ala184Val
ENST00000481823.5:c.*870C>T	ENSP00000419051.1:n.*870C>T
ENST00000539310.5:c.617C>T	ENSP00000445339.2:p.Ala206Val
XM_011537534.1:c.617C>T	XP_011535836.1:p.Ala206Val