Canonical Allele Identifier: CA412013054
Community Standard Title: NM_181332.3(NLGN4X):c.2078T>C (p.Phe693Ser)
Gene: NLGN4X HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.5893190A>G , CM000685.2:g.5893190A>G GRCh38
NC_000023.10:g.5811231A>G , CM000685.1:g.5811231A>G GRCh37
NC_000023.9:g.5821231A>G NCBI36
NG_008881.1:g.340476T>C
NG_008881.2:g.340693T>C

Transcript Alleles

HGVS Amino-acid Change
NM_181332.3:c.2078T>C MANE Select NP_851849.1:p.Phe693Ser
ENST00000381095.8:c.2078T>C MANE Select ENSP00000370485.3:p.Phe693Ser
NM_001282145.1:c.2078T>C NP_001269074.1:p.Phe693Ser
NM_001282145.2:c.2078T>C NP_001269074.1:p.Phe693Ser
NM_001282146.1:c.2078T>C NP_001269075.1:p.Phe693Ser
NM_001282146.2:c.2078T>C NP_001269075.1:p.Phe693Ser
NM_020742.3:c.2078T>C NP_065793.1:p.Phe693Ser
NM_020742.4:c.2078T>C NP_065793.1:p.Phe693Ser
NM_181332.2:c.2078T>C NP_851849.1:p.Phe693Ser
ENST00000275857.10:c.2078T>C ENSP00000275857.6:p.Phe693Ser
ENST00000381092.1:c.2078T>C ENSP00000370482.1:p.Phe693Ser
ENST00000381093.6:c.2078T>C ENSP00000370483.3:p.Phe693Ser
ENST00000381095.7:c.2078T>C ENSP00000370485.3:p.Phe693Ser
ENST00000477079.1:n.277+9887T>C
ENST00000538097.5:c.2081T>C ENSP00000439203.2:p.Phe694Ser
ENST00000538097.6:c.2138T>C ENSP00000439203.3:p.Phe713Ser
XM_005274564.1:c.2138T>C XP_005274621.1:p.Phe713Ser
XM_005274564.3:c.2138T>C XP_005274621.1:p.Phe713Ser
XM_005274565.1:c.2138T>C XP_005274622.1:p.Phe713Ser
XM_005274565.2:c.2138T>C XP_005274622.1:p.Phe713Ser
XM_005274566.3:c.2138T>C XP_005274623.1:p.Phe713Ser
XM_005274566.4:c.2138T>C XP_005274623.1:p.Phe713Ser
XM_006724504.2:c.2138T>C XP_006724567.1:p.Phe713Ser
XM_006724504.3:c.2138T>C XP_006724567.1:p.Phe713Ser
XM_011545547.1:c.2138T>C XP_011543849.1:p.Phe713Ser
XM_011545547.2:c.2138T>C XP_011543849.1:p.Phe713Ser
XM_011545548.1:c.2138T>C XP_011543850.1:p.Phe713Ser
XM_011545548.2:c.2138T>C XP_011543850.1:p.Phe713Ser
XM_017029691.1:c.2078T>C XP_016885180.1:p.Phe693Ser
XM_017029692.1:c.2078T>C XP_016885181.1:p.Phe693Ser
XM_017029693.1:c.2078T>C XP_016885182.1:p.Phe693Ser