Canonical Allele Identifier: CA412014441
Community Standard Title: NM_181332.3(NLGN4X):c.550A>G (p.Met184Val)
Gene: NLGN4X HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.6029355T>C , CM000685.2:g.6029355T>C GRCh38
NC_000023.10:g.5947396T>C , CM000685.1:g.5947396T>C GRCh37
NC_000023.9:g.5957396T>C NCBI36
NG_008881.1:g.204311A>G
NG_008881.2:g.204528A>G

Transcript Alleles

HGVS Amino-acid Change
NM_181332.3:c.550A>G MANE Select NP_851849.1:p.Met184Val
ENST00000381095.8:c.550A>G MANE Select ENSP00000370485.3:p.Met184Val
NM_001282145.1:c.550A>G NP_001269074.1:p.Met184Val
NM_001282145.2:c.550A>G NP_001269074.1:p.Met184Val
NM_001282146.1:c.550A>G NP_001269075.1:p.Met184Val
NM_001282146.2:c.550A>G NP_001269075.1:p.Met184Val
NM_020742.3:c.550A>G NP_065793.1:p.Met184Val
NM_020742.4:c.550A>G NP_065793.1:p.Met184Val
NM_181332.2:c.550A>G NP_851849.1:p.Met184Val
ENST00000275857.10:c.550A>G ENSP00000275857.6:p.Met184Val
ENST00000381092.1:c.550A>G ENSP00000370482.1:p.Met184Val
ENST00000381093.6:c.550A>G ENSP00000370483.3:p.Met184Val
ENST00000381095.7:c.550A>G ENSP00000370485.3:p.Met184Val
ENST00000538097.5:c.553A>G ENSP00000439203.2:p.Met185Val
ENST00000538097.6:c.610A>G ENSP00000439203.3:p.Met204Val
XM_005274564.1:c.610A>G XP_005274621.1:p.Met204Val
XM_005274564.3:c.610A>G XP_005274621.1:p.Met204Val
XM_005274565.1:c.610A>G XP_005274622.1:p.Met204Val
XM_005274565.2:c.610A>G XP_005274622.1:p.Met204Val
XM_005274566.3:c.610A>G XP_005274623.1:p.Met204Val
XM_005274566.4:c.610A>G XP_005274623.1:p.Met204Val
XM_006724504.2:c.610A>G XP_006724567.1:p.Met204Val
XM_006724504.3:c.610A>G XP_006724567.1:p.Met204Val
XM_011545547.1:c.610A>G XP_011543849.1:p.Met204Val
XM_011545547.2:c.610A>G XP_011543849.1:p.Met204Val
XM_011545548.1:c.610A>G XP_011543850.1:p.Met204Val
XM_011545548.2:c.610A>G XP_011543850.1:p.Met204Val
XM_017029691.1:c.550A>G XP_016885180.1:p.Met184Val
XM_017029692.1:c.550A>G XP_016885181.1:p.Met184Val
XM_017029693.1:c.550A>G XP_016885182.1:p.Met184Val