Canonical Allele Identifier: CA2429826650
Gene: SMC1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53409280A= , CM000685.2:g.53409280A= GRCh38
NC_000023.10:g.53436211A= , CM000685.1:g.53436211A= GRCh37
NC_000023.9:g.53452936A= NCBI36
NG_006988.2:g.18391T= , LRG_773:g.18391T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1338-11T= MANE Select ENSP00000323421.3:n.1338-11T=
ENST00000674590.1:c.570-11T= ENSP00000502626.1:n.570-11T=
ENST00000675065.1:n.690-11T=
ENST00000675504.1:c.1272-11T= ENSP00000502524.1:n.1272-11T=
ENST00000322213.8:c.1338-11T= ENSP00000323421.3:n.1338-11T=
ENST00000375340.10:c.1272-11T= ENSP00000364489.7:n.1272-11T=
NM_001281463.1:c.1272-11T= , LRG_773t1:c.1272-11T= NP_001268392.1:n.1272-11T=
NM_006306.3:c.1338-11T= , LRG_773t2:c.1338-11T= NP_006297.2:n.1338-11T=
NM_006306.4:c.1338-11T= MANE Select NP_006297.2:n.1338-11T=