Canonical Allele Identifier: CA2740092158
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3062286
ClinVar RCV Id: RCV003986008
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405572dup , CM000685.2:g.53405572dup GRCh38
NC_000023.10:g.53432504dup , CM000685.1:g.53432504dup GRCh37
NC_000023.9:g.53449229dup NCBI36
NG_006988.2:g.22099dup , LRG_773:g.22099dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1832dup MANE Select ENSP00000323421.3:p.Tyr611Ter
ENST00000674590.1:c.1064dup ENSP00000502626.1:p.Tyr355Ter
ENST00000675065.1:n.1184dup
ENST00000675504.1:c.1766dup ENSP00000502524.1:p.Tyr589Ter
ENST00000322213.8:c.1832dup ENSP00000323421.3:p.Tyr611Ter
ENST00000375340.10:c.1766dup ENSP00000364489.7:p.Tyr589Ter
NM_001281463.1:c.1766dup , LRG_773t1:c.1766dup NP_001268392.1:p.Tyr589Ter
NM_006306.3:c.1832dup , LRG_773t2:c.1832dup NP_006297.2:p.Tyr611Ter
NM_006306.4:c.1832dup MANE Select NP_006297.2:p.Tyr611Ter
Search 100 bp 5'
Search 100 bp 3'