Canonical Allele Identifier: CA1139303117
Gene: NLGN4Y HGNC NCBI

Linked Data

gnomAD v3: Y-14527004-C-T
gnomAD v4: Y-14527004-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.14527004C>T , CM000686.2:g.14527004C>T GRCh38
NC_000024.9:g.16638884C>T , CM000686.1:g.16638884C>T GRCh37
NC_000024.8:g.15148278C>T NCBI36
NG_028212.1:g.9397C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684976.1:c.-112+2296C>T MANE Select ENSP00000510011.1:n.-112+2296C>T
ENST00000643089.1:c.-112+4063C>T ENSP00000496594.1:n.-112+4063C>T
ENST00000645399.1:c.-112+2720C>T ENSP00000494046.1:n.-112+2720C>T
ENST00000339174.9:c.-112+2068C>T ENSP00000342535.5:n.-112+2068C>T
ENST00000355905.6:c.-100+3106C>T ENSP00000348169.2:n.-100+3106C>T
ENST00000382868.5:c.-100+3106C>T ENSP00000372320.1:n.-100+3106C>T
ENST00000382872.5:c.-93+4063C>T ENSP00000372325.1:n.-93+4063C>T
ENST00000471252.1:n.304+4063C>T
ENST00000476359.1:n.153+3106C>T
ENST00000481089.1:n.180+2296C>T
NM_001206850.1:c.-93+4063C>T NP_001193779.1:n.-93+4063C>T
NM_014893.4:c.-100+3106C>T NP_055708.3:n.-100+3106C>T
NR_028319.1:n.363+2068C>T
NR_046355.1:n.68+3432C>T
XM_006724874.1:c.-112+2720C>T XP_006724937.1:n.-112+2720C>T
XM_011531424.1:c.-112+2068C>T XP_011529726.1:n.-112+2068C>T
XM_011531425.1:c.-112+2296C>T XP_011529727.1:n.-112+2296C>T
XM_011531426.1:c.-112+4063C>T XP_011529728.1:n.-112+4063C>T
XM_011531428.1:c.-192+2068C>T XP_011529730.1:n.-192+2068C>T
XM_011531430.1:c.-112+2447C>T XP_011529732.1:n.-112+2447C>T
XM_011531431.1:c.-112+2068C>T XP_011529733.1:n.-112+2068C>T
NM_001365584.1:c.-112+2068C>T NP_001352513.1:n.-112+2068C>T
NM_001365586.1:c.-112+4063C>T NP_001352515.1:n.-112+4063C>T
NM_001365588.1:c.-112+2296C>T MANE Select NP_001352517.1:n.-112+2296C>T
NM_001365590.1:c.-319+2068C>T NP_001352519.1:n.-319+2068C>T
NM_001365591.1:c.-112+4063C>T NP_001352520.1:n.-112+4063C>T
NM_001365592.1:c.-112+2296C>T NP_001352521.1:n.-112+2296C>T
NM_001365593.1:c.-112+2447C>T NP_001352522.1:n.-112+2447C>T
XM_006724874.2:c.-112+2720C>T XP_006724937.1:n.-112+2720C>T
XM_011531430.2:c.-112+2447C>T XP_011529732.1:n.-112+2447C>T
XM_017030041.1:c.-112+2296C>T XP_016885530.1:n.-112+2296C>T
NM_001206850.2:c.-93+4063C>T NP_001193779.1:n.-93+4063C>T
NM_014893.5:c.-100+3106C>T NP_055708.3:n.-100+3106C>T
NR_046355.2:n.68+3432C>T
NM_001394830.1:c.-112+3432C>T NP_001381759.1:n.-112+3432C>T
NM_001394831.1:c.-112+2068C>T NP_001381760.1:n.-112+2068C>T