Canonical Allele Identifier: CA393458209
Community Standard Title: NM_001145358.2(SIN3A):c.366+5T>C
Gene: SIN3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.75422642A>G , CM000677.2:g.75422642A>G GRCh38
NC_000015.9:g.75714983A>G , CM000677.1:g.75714983A>G GRCh37
NC_000015.8:g.73502036A>G NCBI36
NG_052855.1:g.38142T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001145358.2:c.366+5T>C MANE Select NP_001138830.1:n.366+5T>C
ENST00000394947.8:c.366+5T>C MANE Select ENSP00000378402.3:n.366+5T>C
NM_001145357.1:c.366+5T>C NP_001138829.1:n.366+5T>C
NM_001145357.2:c.366+5T>C NP_001138829.1:n.366+5T>C
NM_001145358.1:c.366+5T>C NP_001138830.1:n.366+5T>C
NM_015477.2:c.366+5T>C NP_056292.1:n.366+5T>C
NM_015477.3:c.366+5T>C NP_056292.1:n.366+5T>C
ENST00000360439.8:c.366+5T>C ENSP00000353622.4:n.366+5T>C
ENST00000394947.7:c.366+5T>C ENSP00000378402.3:n.366+5T>C
ENST00000394949.8:c.366+5T>C ENSP00000378403.4:n.366+5T>C
ENST00000562776.5:c.366+5T>C ENSP00000455072.1:n.366+5T>C
ENST00000564778.5:c.366+5T>C ENSP00000455204.1:n.366+5T>C
ENST00000564778.6:c.366+5T>C ENSP00000455204.2:n.366+5T>C
ENST00000565264.2:c.366+5T>C ENSP00000454296.2:n.366+5T>C
ENST00000567289.5:c.371T>C ENSP00000455834.1:p.Val124Ala
ENST00000568431.5:c.366+5T>C ENSP00000454750.1:n.366+5T>C
ENST00000704304.1:c.*320+5T>C ENSP00000515828.1:n.*320+5T>C
ENST00000704305.1:c.476+5T>C ENSP00000515829.1:n.476+5T>C
ENST00000704310.1:c.366+5T>C ENSP00000515832.1:n.366+5T>C
ENST00000704312.1:c.366+5T>C ENSP00000515834.1:n.366+5T>C
XM_006720465.2:c.366+5T>C XP_006720528.1:n.366+5T>C
XM_006720465.3:c.366+5T>C XP_006720528.1:n.366+5T>C
XM_006720466.2:c.366+5T>C XP_006720529.1:n.366+5T>C
XM_006720466.3:c.366+5T>C XP_006720529.1:n.366+5T>C
XM_006720467.2:c.366+5T>C XP_006720530.1:n.366+5T>C
XM_006720467.3:c.366+5T>C XP_006720530.1:n.366+5T>C
XM_024449896.1:c.366+5T>C XP_024305664.1:n.366+5T>C