Canonical Allele Identifier: CA413555422
Community Standard Title: NM_181303.2(NLGN3):c.806G>A (p.Ser269Asn)
Gene: NLGN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71164221G>A , CM000685.2:g.71164221G>A GRCh38
NC_000023.10:g.70384071G>A , CM000685.1:g.70384071G>A GRCh37
NC_000023.9:g.70300796G>A NCBI36
NG_015874.1:g.24391G>A

Transcript Alleles

HGVS Amino-acid Change
NM_181303.2:c.806G>A MANE Select NP_851820.1:p.Ser269Asn
ENST00000358741.4:c.806G>A MANE Select ENSP00000351591.4:p.Ser269Asn
NM_001166660.1:c.686G>A NP_001160132.1:p.Ser229Asn
NM_001166660.2:c.686G>A NP_001160132.1:p.Ser229Asn
NM_001321276.1:c.395G>A NP_001308205.1:p.Ser132Asn
NM_001321276.2:c.395G>A NP_001308205.1:p.Ser132Asn
NM_018977.3:c.746G>A NP_061850.2:p.Ser249Asn
NM_018977.4:c.746G>A NP_061850.2:p.Ser249Asn
NM_181303.1:c.806G>A NP_851820.1:p.Ser269Asn
ENST00000358741.3:c.806G>A ENSP00000351591.3:p.Ser269Asn
ENST00000374051.7:c.746G>A ENSP00000363163.3:p.Ser249Asn
ENST00000395855.6:c.686G>A ENSP00000379196.2:p.Ser229Asn
ENST00000395855.7:c.686G>A ENSP00000379196.3:p.Ser229Asn
ENST00000476589.1:n.310G>A
ENST00000476589.2:n.985G>A
ENST00000536169.5:c.686G>A ENSP00000445298.1:p.Ser229Asn
ENST00000536169.6:c.686G>A ENSP00000445298.1:p.Ser229Asn
ENST00000612180.4:c.395G>A ENSP00000479877.1:p.Ser132Asn
ENST00000685718.1:c.746G>A ENSP00000510514.1:p.Ser249Asn
ENST00000685950.1:n.2481G>A
ENST00000687220.1:c.455G>A ENSP00000509531.1:p.Ser152Asn
ENST00000687470.1:c.806G>A ENSP00000508881.1:p.Ser269Asn
ENST00000687568.1:c.686G>A ENSP00000509635.1:p.Ser229Asn
ENST00000688566.1:c.455G>A ENSP00000509202.1:p.Ser152Asn
ENST00000688950.1:n.1789G>A
ENST00000689857.1:c.536G>A ENSP00000510719.1:p.Ser179Asn
ENST00000689968.1:c.746G>A ENSP00000510150.1:p.Ser249Asn
ENST00000690133.1:c.395G>A ENSP00000508912.1:p.Ser132Asn
ENST00000690293.1:c.*346G>A ENSP00000509154.1:n.*346G>A
ENST00000691045.1:n.693G>A
ENST00000692338.1:c.395G>A ENSP00000508700.1:p.Ser132Asn
ENST00000692468.1:n.310G>A
ENST00000692905.1:c.746G>A ENSP00000510435.1:p.Ser249Asn
XM_005262279.2:c.806G>A XP_005262336.1:p.Ser269Asn
XM_006724662.2:c.659G>A XP_006724725.2:p.Ser220Asn
XM_006724662.4:c.659G>A XP_006724725.2:p.Ser220Asn
XM_006724663.2:c.455G>A XP_006724726.1:p.Ser152Asn
XM_006724663.4:c.455G>A XP_006724726.1:p.Ser152Asn
XM_011530974.1:c.455G>A XP_011529276.1:p.Ser152Asn
XM_011530974.3:c.455G>A XP_011529276.1:p.Ser152Asn
XM_011530975.1:c.395G>A XP_011529277.1:p.Ser132Asn
XM_017029597.2:c.806G>A XP_016885086.1:p.Ser269Asn