Canonical Allele Identifier: CA413253224
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2296806
ClinVar RCV Id: RCV002877796

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405635C>T , CM000685.2:g.53405635C>T GRCh38
NC_000023.10:g.53432567C>T , CM000685.1:g.53432567C>T GRCh37
NC_000023.9:g.53449292C>T NCBI36
NG_006988.2:g.22036G>A , LRG_773:g.22036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1769G>A MANE Select ENSP00000323421.3:p.Gly590Glu
ENST00000674590.1:c.1001G>A ENSP00000502626.1:p.Gly334Glu
ENST00000675065.1:n.1121G>A
ENST00000675504.1:c.1703G>A ENSP00000502524.1:p.Gly568Glu
ENST00000322213.8:c.1769G>A ENSP00000323421.3:p.Gly590Glu
ENST00000375340.10:c.1703G>A ENSP00000364489.7:p.Gly568Glu
NM_001281463.1:c.1703G>A , LRG_773t1:c.1703G>A NP_001268392.1:p.Gly568Glu
NM_006306.3:c.1769G>A , LRG_773t2:c.1769G>A NP_006297.2:p.Gly590Glu
NM_006306.4:c.1769G>A MANE Select NP_006297.2:p.Gly590Glu