Canonical Allele Identifier: CA16608533
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 384752
ClinVar RCV Id: RCV000429287
dbSNP Id: rs1057522040

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53409103C>T , CM000685.2:g.53409103C>T GRCh38
NC_000023.10:g.53436034C>T , CM000685.1:g.53436034C>T GRCh37
NC_000023.9:g.53452759C>T NCBI36
NG_006988.2:g.18568G>A , LRG_773:g.18568G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.1504G>A MANE Select ENSP00000323421.3:p.Glu502Lys
ENST00000674590.1:c.736G>A ENSP00000502626.1:p.Glu246Lys
ENST00000675065.1:n.856G>A
ENST00000675504.1:c.1438G>A ENSP00000502524.1:p.Glu480Lys
ENST00000322213.8:c.1504G>A ENSP00000323421.3:p.Glu502Lys
ENST00000375340.10:c.1438G>A ENSP00000364489.7:p.Glu480Lys
NM_001281463.1:c.1438G>A , LRG_773t1:c.1438G>A NP_001268392.1:p.Glu480Lys
NM_006306.3:c.1504G>A , LRG_773t2:c.1504G>A NP_006297.2:p.Glu502Lys
NM_006306.4:c.1504G>A MANE Select NP_006297.2:p.Glu502Lys