Canonical Allele Identifier: CA15891332
Gene: STXBP4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.54970138G>A , CM000679.2:g.54970138G>A GRCh38
NC_000017.10:g.53047499G>A , CM000679.1:g.53047499G>A GRCh37
NC_000017.9:g.50402498G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376352.6:c.-157+1323G>A MANE Select ENSP00000365530.2:n.-157+1323G>A
ENST00000398391.6:c.-255+1323G>A ENSP00000381427.2:n.-255+1323G>A
ENST00000405898.5:c.-79+1323G>A ENSP00000385944.1:n.-79+1323G>A
ENST00000434978.6:c.-157+1323G>A ENSP00000391087.2:n.-157+1323G>A
ENST00000461444.5:n.89+1323G>A
ENST00000464340.5:n.24+1323G>A
NM_178509.5:c.-157+1323G>A NP_848604.3:n.-157+1323G>A
XM_005257187.3:c.-157+1323G>A XP_005257244.1:n.-157+1323G>A
XM_006721797.2:c.-157+1323G>A XP_006721860.1:n.-157+1323G>A
XM_006721798.2:c.-157+1323G>A XP_006721861.1:n.-157+1323G>A
XM_011524581.1:c.-157+1323G>A XP_011522883.1:n.-157+1323G>A
XM_011524582.1:c.-157+1323G>A XP_011522884.1:n.-157+1323G>A
XM_011524583.1:c.-157+1323G>A XP_011522885.1:n.-157+1323G>A
XM_011524584.1:c.-157+1323G>A XP_011522886.1:n.-157+1323G>A
XR_934431.1:n.81+1323G>A
XM_005257187.4:c.-157+1323G>A XP_005257244.1:n.-157+1323G>A
XM_006721797.4:c.-157+1323G>A XP_006721860.1:n.-157+1323G>A
XM_006721798.4:c.-157+1323G>A XP_006721861.1:n.-157+1323G>A
XM_017024410.1:c.-157+1323G>A XP_016879899.1:n.-157+1323G>A
XM_017024411.2:c.-157+1323G>A XP_016879900.1:n.-157+1323G>A
XM_017024412.2:c.-157+1323G>A XP_016879901.1:n.-157+1323G>A
XM_017024414.2:c.-157+1323G>A XP_016879903.1:n.-157+1323G>A
XM_017024415.1:c.-157+1323G>A XP_016879904.1:n.-157+1323G>A
NM_178509.6:c.-157+1323G>A MANE Select NP_848604.3:n.-157+1323G>A
NM_001398481.1:c.-157+1323G>A NP_001385410.1:n.-157+1323G>A
NM_001398482.1:c.-157+1323G>A NP_001385411.1:n.-157+1323G>A
NM_001398483.1:c.-157+1323G>A NP_001385412.1:n.-157+1323G>A
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