Canonical Allele Identifier: CA393499320
Community Standard Title: NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)
Gene: SIN3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.75401967G>A , CM000677.2:g.75401967G>A GRCh38
NC_000015.9:g.75694308G>A , CM000677.1:g.75694308G>A GRCh37
NC_000015.8:g.73481361G>A NCBI36
NG_052855.1:g.58817C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001145358.2:c.1411C>T MANE Select NP_001138830.1:p.Arg471Ter
ENST00000394947.8:c.1411C>T MANE Select ENSP00000378402.3:p.Arg471Ter
NM_001145357.1:c.1411C>T NP_001138829.1:p.Arg471Ter
NM_001145357.2:c.1411C>T NP_001138829.1:p.Arg471Ter
NM_001145358.1:c.1411C>T NP_001138830.1:p.Arg471Ter
NM_015477.2:c.1411C>T NP_056292.1:p.Arg471Ter
NM_015477.3:c.1411C>T NP_056292.1:p.Arg471Ter
ENST00000360439.8:c.1411C>T ENSP00000353622.4:p.Arg471Ter
ENST00000394947.7:c.1411C>T ENSP00000378402.3:p.Arg471Ter
ENST00000394949.8:c.1411C>T ENSP00000378403.4:p.Arg471Ter
ENST00000564778.6:c.1411C>T ENSP00000455204.2:p.Arg471Ter
ENST00000565264.2:c.1411C>T ENSP00000454296.2:p.Arg471Ter
ENST00000704302.1:c.733C>T ENSP00000515826.1:p.Arg245Ter
ENST00000704304.1:c.*1365C>T ENSP00000515828.1:n.*1365C>T
ENST00000704305.1:c.1521C>T ENSP00000515829.1:n.1521C>T
ENST00000704310.1:c.1411C>T ENSP00000515832.1:p.Arg471Ter
ENST00000704311.1:c.191C>T
ENST00000704312.1:c.1411C>T ENSP00000515834.1:p.Arg471Ter
XM_006720465.2:c.1411C>T XP_006720528.1:p.Arg471Ter
XM_006720465.3:c.1411C>T XP_006720528.1:p.Arg471Ter
XM_006720466.2:c.1411C>T XP_006720529.1:p.Arg471Ter
XM_006720466.3:c.1411C>T XP_006720529.1:p.Arg471Ter
XM_006720467.2:c.1411C>T XP_006720530.1:p.Arg471Ter
XM_006720467.3:c.1411C>T XP_006720530.1:p.Arg471Ter
XM_024449896.1:c.1411C>T XP_024305664.1:p.Arg471Ter