Canonical Allele Identifier: CA393447885
Community Standard Title: NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)
Gene: SIN3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.75411634G>T , CM000677.2:g.75411634G>T GRCh38
NC_000015.9:g.75703975G>T , CM000677.1:g.75703975G>T GRCh37
NC_000015.8:g.73491028G>T NCBI36
NG_052855.1:g.49150C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001145358.2:c.866C>A MANE Select NP_001138830.1:p.Ser289Ter
ENST00000394947.8:c.866C>A MANE Select ENSP00000378402.3:p.Ser289Ter
NM_001145357.1:c.866C>A NP_001138829.1:p.Ser289Ter
NM_001145357.2:c.866C>A NP_001138829.1:p.Ser289Ter
NM_001145358.1:c.866C>A NP_001138830.1:p.Ser289Ter
NM_015477.2:c.866C>A NP_056292.1:p.Ser289Ter
NM_015477.3:c.866C>A NP_056292.1:p.Ser289Ter
ENST00000360439.8:c.866C>A ENSP00000353622.4:p.Ser289Ter
ENST00000394947.7:c.866C>A ENSP00000378402.3:p.Ser289Ter
ENST00000394949.8:c.866C>A ENSP00000378403.4:p.Ser289Ter
ENST00000564778.6:c.866C>A ENSP00000455204.2:p.Ser289Ter
ENST00000565264.2:c.866C>A ENSP00000454296.2:p.Ser289Ter
ENST00000704302.1:c.188C>A ENSP00000515826.1:p.Ser63Ter
ENST00000704304.1:c.*820C>A ENSP00000515828.1:n.*820C>A
ENST00000704305.1:c.976C>A ENSP00000515829.1:n.976C>A
ENST00000704310.1:c.866C>A ENSP00000515832.1:p.Ser289Ter
ENST00000704312.1:c.866C>A ENSP00000515834.1:p.Ser289Ter
XM_006720465.2:c.866C>A XP_006720528.1:p.Ser289Ter
XM_006720465.3:c.866C>A XP_006720528.1:p.Ser289Ter
XM_006720466.2:c.866C>A XP_006720529.1:p.Ser289Ter
XM_006720466.3:c.866C>A XP_006720529.1:p.Ser289Ter
XM_006720467.2:c.866C>A XP_006720530.1:p.Ser289Ter
XM_006720467.3:c.866C>A XP_006720530.1:p.Ser289Ter
XM_024449896.1:c.866C>A XP_024305664.1:p.Ser289Ter