Canonical Allele Identifier: CA413243683
Gene: SMC1A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3286G>T MANE Select ENSP00000323421.3:p.Ala1096Ser
ENST00000674590.1:c.2518G>T ENSP00000502626.1:p.Ala840Ser
ENST00000675504.1:c.3220G>T ENSP00000502524.1:p.Ala1074Ser
ENST00000322213.8:c.3286G>T ENSP00000323421.3:p.Ala1096Ser
ENST00000375340.10:c.3220G>T ENSP00000364489.7:p.Ala1074Ser
ENST00000469129.1:n.142G>T
ENST00000470241.2:c.576G>T
NM_001281463.1:c.3220G>T , LRG_773t1:c.3220G>T NP_001268392.1:p.Ala1074Ser
NM_006306.3:c.3286G>T , LRG_773t2:c.3286G>T NP_006297.2:p.Ala1096Ser
NM_006306.4:c.3286G>T MANE Select NP_006297.2:p.Ala1096Ser