Canonical Allele Identifier: CA326308989

Gene: NLGN4X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.5892951G>A , CM000685.2:g.5892951G>A	GRCh38
NC_000023.10:g.5810992G>A , CM000685.1:g.5810992G>A	GRCh37
NC_000023.9:g.5820992G>A	NCBI36
NG_008881.1:g.340715C>T
NG_008881.2:g.340932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381095.8:c.2317C>T MANE Select	ENSP00000370485.3:p.Leu773Phe
ENST00000538097.6:c.2377C>T	ENSP00000439203.3:p.Leu793Phe
ENST00000275857.10:c.2317C>T	ENSP00000275857.6:p.Leu773Phe
ENST00000381092.1:c.2317C>T	ENSP00000370482.1:p.Leu773Phe
ENST00000381093.6:c.2317C>T	ENSP00000370483.3:p.Leu773Phe
ENST00000381095.7:c.2317C>T	ENSP00000370485.3:p.Leu773Phe
ENST00000477079.1:n.277+10126C>T
ENST00000538097.5:c.2320C>T	ENSP00000439203.2:p.Leu774Phe
NM_001282145.1:c.2317C>T	NP_001269074.1:p.Leu773Phe
NM_001282146.1:c.2317C>T	NP_001269075.1:p.Leu773Phe
NM_020742.3:c.2317C>T	NP_065793.1:p.Leu773Phe
NM_181332.2:c.2317C>T	NP_851849.1:p.Leu773Phe
XM_005274564.1:c.2377C>T	XP_005274621.1:p.Leu793Phe
XM_005274565.1:c.2377C>T	XP_005274622.1:p.Leu793Phe
XM_005274566.3:c.2377C>T	XP_005274623.1:p.Leu793Phe
XM_006724504.2:c.2377C>T	XP_006724567.1:p.Leu793Phe
XM_011545547.1:c.2377C>T	XP_011543849.1:p.Leu793Phe
XM_011545548.1:c.2377C>T	XP_011543850.1:p.Leu793Phe
XM_005274564.3:c.2377C>T	XP_005274621.1:p.Leu793Phe
XM_005274565.2:c.2377C>T	XP_005274622.1:p.Leu793Phe
XM_005274566.4:c.2377C>T	XP_005274623.1:p.Leu793Phe
XM_006724504.3:c.2377C>T	XP_006724567.1:p.Leu793Phe
XM_011545547.2:c.2377C>T	XP_011543849.1:p.Leu793Phe
XM_011545548.2:c.2377C>T	XP_011543850.1:p.Leu793Phe
XM_017029691.1:c.2317C>T	XP_016885180.1:p.Leu773Phe
XM_017029692.1:c.2317C>T	XP_016885181.1:p.Leu773Phe
XM_017029693.1:c.2317C>T	XP_016885182.1:p.Leu773Phe
NM_181332.3:c.2317C>T MANE Select	NP_851849.1:p.Leu773Phe
NM_001282145.2:c.2317C>T	NP_001269074.1:p.Leu773Phe
NM_001282146.2:c.2317C>T	NP_001269075.1:p.Leu773Phe
NM_020742.4:c.2317C>T	NP_065793.1:p.Leu773Phe