Canonical Allele Identifier: CA413564640

Gene: NLGN3

Linked Data

• MyVariant Identifiers: chrX:g.70389150A>C (hg19) ; chrX:g.71169300A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71169300A>C , CM000685.2:g.71169300A>C	GRCh38
NC_000023.10:g.70389150A>C , CM000685.1:g.70389150A>C	GRCh37
NC_000023.9:g.70305875A>C	NCBI36
NG_015874.1:g.29470A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000476589.2:n.1929A>C
ENST00000536169.6:c.1630A>C	ENSP00000445298.1:p.Lys544Gln
ENST00000685718.1:c.*1097A>C	ENSP00000510514.1:n.*1097A>C
ENST00000685950.1:n.3425A>C
ENST00000687220.1:c.1399A>C	ENSP00000509531.1:p.Lys467Gln
ENST00000687470.1:c.1750A>C	ENSP00000508881.1:p.Lys584Gln
ENST00000687568.1:c.840A>C	ENSP00000509635.1:p.Pro280=
ENST00000688566.1:c.1399A>C	ENSP00000509202.1:p.Lys467Gln
ENST00000688950.1:n.2733A>C
ENST00000689857.1:c.1480A>C	ENSP00000510719.1:p.Lys494Gln
ENST00000689968.1:c.1644-233A>C	ENSP00000510150.1:n.1644-233A>C
ENST00000690133.1:c.1339A>C	ENSP00000508912.1:p.Lys447Gln
ENST00000690293.1:c.*1290A>C	ENSP00000509154.1:n.*1290A>C
ENST00000692338.1:c.1339A>C	ENSP00000508700.1:p.Lys447Gln
ENST00000692468.1:n.1254A>C
ENST00000358741.4:c.1750A>C MANE Select	ENSP00000351591.4:p.Lys584Gln
ENST00000358741.3:c.1750A>C	ENSP00000351591.3:p.Lys584Gln
ENST00000374051.7:c.1690A>C	ENSP00000363163.3:p.Lys564Gln
ENST00000476589.1:n.1254A>C
ENST00000536169.5:c.1630A>C	ENSP00000445298.1:p.Lys544Gln
ENST00000612180.4:c.*282A>C	ENSP00000479877.1:n.*282A>C
NM_001166660.1:c.1630A>C	NP_001160132.1:p.Lys544Gln
NM_018977.3:c.1690A>C	NP_061850.2:p.Lys564Gln
NM_181303.1:c.1750A>C	NP_851820.1:p.Lys584Gln
XM_005262279.2:c.1703+1500A>C	XP_005262336.1:n.1703+1500A>C
XM_006724662.2:c.1603A>C	XP_006724725.2:p.Lys535Gln
XM_006724663.2:c.1399A>C	XP_006724726.1:p.Lys467Gln
XM_011530974.1:c.1399A>C	XP_011529276.1:p.Lys467Gln
XM_011530975.1:c.1339A>C	XP_011529277.1:p.Lys447Gln
NM_001321276.1:c.1339A>C	NP_001308205.1:p.Lys447Gln
XM_006724662.4:c.1603A>C	XP_006724725.2:p.Lys535Gln
XM_006724663.4:c.1399A>C	XP_006724726.1:p.Lys467Gln
XM_011530974.3:c.1399A>C	XP_011529276.1:p.Lys467Gln
XM_017029597.2:c.1703+1500A>C	XP_016885086.1:n.1703+1500A>C
NM_001321276.2:c.1339A>C	NP_001308205.1:p.Lys447Gln
NM_018977.4:c.1690A>C	NP_061850.2:p.Lys564Gln
NM_181303.2:c.1750A>C MANE Select	NP_851820.1:p.Lys584Gln
NM_001166660.2:c.1630A>C	NP_001160132.1:p.Lys544Gln