Canonical Allele Identifier: CA2429825220
Gene: SMC1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405202C= , CM000685.2:g.53405202C= GRCh38
NC_000023.10:g.53432134C= , CM000685.1:g.53432134C= GRCh37
NC_000023.9:g.53448859C= NCBI36
NG_006988.2:g.22469G= , LRG_773:g.22469G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2058+43G= MANE Select ENSP00000323421.3:n.2058+43G=
ENST00000674590.1:c.1290+43G= ENSP00000502626.1:n.1290+43G=
ENST00000675065.1:n.1410+43G=
ENST00000675504.1:c.1992+43G= ENSP00000502524.1:n.1992+43G=
ENST00000322213.8:c.2058+43G= ENSP00000323421.3:n.2058+43G=
ENST00000375340.10:c.1992+43G= ENSP00000364489.7:n.1992+43G=
NM_001281463.1:c.1992+43G= , LRG_773t1:c.1992+43G= NP_001268392.1:n.1992+43G=
NM_006306.3:c.2058+43G= , LRG_773t2:c.2058+43G= NP_006297.2:n.2058+43G=
NM_006306.4:c.2058+43G= MANE Select NP_006297.2:n.2058+43G=
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