Canonical Allele Identifier: CA10445214

Gene: NLGN3

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71169775G>A , CM000685.2:g.71169775G>A	GRCh38
NC_000023.10:g.70389625G>A , CM000685.1:g.70389625G>A	GRCh37
NC_000023.9:g.70306350G>A	NCBI36
NG_015874.1:g.29945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476589.2:n.2404G>A
ENST00000536169.6:c.2105G>A	ENSP00000445298.1:p.Arg702Gln
ENST00000685718.1:c.*1572G>A	ENSP00000510514.1:n.*1572G>A
ENST00000685950.1:n.3900G>A
ENST00000687220.1:c.1874G>A	ENSP00000509531.1:p.Arg625Gln
ENST00000687470.1:c.2194+31G>A	ENSP00000508881.1:n.2194+31G>A
ENST00000687568.1:c.*400G>A	ENSP00000509635.1:n.*400G>A
ENST00000688566.1:c.1874G>A	ENSP00000509202.1:p.Arg625Gln
ENST00000688950.1:n.3208G>A
ENST00000689857.1:c.1955G>A	ENSP00000510719.1:p.Arg652Gln
ENST00000689968.1:c.1886G>A	ENSP00000510150.1:p.Arg629Gln
ENST00000690133.1:c.1814G>A	ENSP00000508912.1:p.Arg605Gln
ENST00000690293.1:c.*1765G>A	ENSP00000509154.1:n.*1765G>A
ENST00000692338.1:c.1814G>A	ENSP00000508700.1:p.Arg605Gln
ENST00000692468.1:n.1729G>A
ENST00000358741.4:c.2225G>A MANE Select	ENSP00000351591.4:p.Arg742Gln
ENST00000358741.3:c.2225G>A	ENSP00000351591.3:p.Arg742Gln
ENST00000374051.7:c.2165G>A	ENSP00000363163.3:p.Arg722Gln
ENST00000476589.1:n.1729G>A
ENST00000536169.5:c.2105G>A	ENSP00000445298.1:p.Arg702Gln
ENST00000612180.4:c.*757G>A	ENSP00000479877.1:n.*757G>A
NM_001166660.1:c.2105G>A	NP_001160132.1:p.Arg702Gln
NM_018977.3:c.2165G>A	NP_061850.2:p.Arg722Gln
NM_181303.1:c.2225G>A	NP_851820.1:p.Arg742Gln
XM_005262279.2:c.1704-1879G>A	XP_005262336.1:n.1704-1879G>A
XM_006724662.2:c.2078G>A	XP_006724725.2:p.Arg693Gln
XM_006724663.2:c.1874G>A	XP_006724726.1:p.Arg625Gln
XM_011530974.1:c.1874G>A	XP_011529276.1:p.Arg625Gln
XM_011530975.1:c.1814G>A	XP_011529277.1:p.Arg605Gln
NM_001321276.1:c.1814G>A	NP_001308205.1:p.Arg605Gln
XM_006724662.4:c.2078G>A	XP_006724725.2:p.Arg693Gln
XM_006724663.4:c.1874G>A	XP_006724726.1:p.Arg625Gln
XM_011530974.3:c.1874G>A	XP_011529276.1:p.Arg625Gln
XM_017029597.2:c.1704-1879G>A	XP_016885086.1:n.1704-1879G>A
NM_001321276.2:c.1814G>A	NP_001308205.1:p.Arg605Gln
NM_018977.4:c.2165G>A	NP_061850.2:p.Arg722Gln
NM_181303.2:c.2225G>A MANE Select	NP_851820.1:p.Arg742Gln
NM_001166660.2:c.2105G>A	NP_001160132.1:p.Arg702Gln