Canonical Allele Identifier: CA413243685
Gene: SMC1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382383C>T , CM000685.2:g.53382383C>T GRCh38
NC_000023.10:g.53409304C>T , CM000685.1:g.53409304C>T GRCh37
NC_000023.9:g.53426029C>T NCBI36
NG_006988.2:g.45288G>A , LRG_773:g.45288G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3286G>A MANE Select ENSP00000323421.3:p.Ala1096Thr
ENST00000674590.1:c.2518G>A ENSP00000502626.1:p.Ala840Thr
ENST00000675504.1:c.3220G>A ENSP00000502524.1:p.Ala1074Thr
ENST00000322213.8:c.3286G>A ENSP00000323421.3:p.Ala1096Thr
ENST00000375340.10:c.3220G>A ENSP00000364489.7:p.Ala1074Thr
ENST00000469129.1:n.142G>A
ENST00000470241.2:c.576G>A
NM_001281463.1:c.3220G>A , LRG_773t1:c.3220G>A NP_001268392.1:p.Ala1074Thr
NM_006306.3:c.3286G>A , LRG_773t2:c.3286G>A NP_006297.2:p.Ala1096Thr
NM_006306.4:c.3286G>A MANE Select NP_006297.2:p.Ala1096Thr