Canonical Allele Identifier: CA121421

Gene: NLGN3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71167508C>T , CM000685.2:g.71167508C>T	GRCh38
NC_000023.10:g.70387358C>T , CM000685.1:g.70387358C>T	GRCh37
NC_000023.9:g.70304083C>T	NCBI36
NG_015874.1:g.27678C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181303.2:c.1411C>T MANE Select	NP_851820.1:p.Arg471Cys
ENST00000358741.4:c.1411C>T MANE Select	ENSP00000351591.4:p.Arg471Cys
NM_001166660.1:c.1291C>T	NP_001160132.1:p.Arg431Cys
NM_001166660.2:c.1291C>T	NP_001160132.1:p.Arg431Cys
NM_001321276.1:c.1000C>T	NP_001308205.1:p.Arg334Cys
NM_001321276.2:c.1000C>T	NP_001308205.1:p.Arg334Cys
NM_018977.3:c.1351C>T	NP_061850.2:p.Arg451Cys
NM_018977.4:c.1351C>T	NP_061850.2:p.Arg451Cys
NM_181303.1:c.1411C>T	NP_851820.1:p.Arg471Cys
ENST00000358741.3:c.1411C>T	ENSP00000351591.3:p.Arg471Cys
ENST00000374051.7:c.1351C>T	ENSP00000363163.3:p.Arg451Cys
ENST00000395855.6:c.1291C>T	ENSP00000379196.2:p.Arg431Cys
ENST00000395855.7:c.1291C>T	ENSP00000379196.3:p.Arg431Cys
ENST00000476589.1:n.915C>T
ENST00000476589.2:n.1590C>T
ENST00000536169.5:c.1291C>T	ENSP00000445298.1:p.Arg431Cys
ENST00000536169.6:c.1291C>T	ENSP00000445298.1:p.Arg431Cys
ENST00000612180.4:c.999C>T	ENSP00000479877.1:p.Ala333=
ENST00000685718.1:c.*758C>T	ENSP00000510514.1:n.*758C>T
ENST00000685950.1:n.3086C>T
ENST00000687220.1:c.1060C>T	ENSP00000509531.1:p.Arg354Cys
ENST00000687470.1:c.1411C>T	ENSP00000508881.1:p.Arg471Cys
ENST00000687568.1:c.794-1746C>T	ENSP00000509635.1:n.794-1746C>T
ENST00000688566.1:c.1060C>T	ENSP00000509202.1:p.Arg354Cys
ENST00000688950.1:n.2394C>T
ENST00000689857.1:c.1141C>T	ENSP00000510719.1:p.Arg381Cys
ENST00000689968.1:c.1351C>T	ENSP00000510150.1:p.Arg451Cys
ENST00000690133.1:c.1000C>T	ENSP00000508912.1:p.Arg334Cys
ENST00000690293.1:c.*951C>T	ENSP00000509154.1:n.*951C>T
ENST00000692338.1:c.1000C>T	ENSP00000508700.1:p.Arg334Cys
ENST00000692468.1:n.915C>T
ENST00000692905.1:c.1351C>T	ENSP00000510435.1:p.Arg451Cys
XM_005262279.2:c.1411C>T	XP_005262336.1:p.Arg471Cys
XM_006724662.2:c.1264C>T	XP_006724725.2:p.Arg422Cys
XM_006724662.4:c.1264C>T	XP_006724725.2:p.Arg422Cys
XM_006724663.2:c.1060C>T	XP_006724726.1:p.Arg354Cys
XM_006724663.4:c.1060C>T	XP_006724726.1:p.Arg354Cys
XM_011530974.1:c.1060C>T	XP_011529276.1:p.Arg354Cys
XM_011530974.3:c.1060C>T	XP_011529276.1:p.Arg354Cys
XM_011530975.1:c.1000C>T	XP_011529277.1:p.Arg334Cys
XM_017029597.2:c.1411C>T	XP_016885086.1:p.Arg471Cys