Canonical Allele Identifier: CA413252690

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1678779
• ClinVar RCV Id: RCV002226093 ; RCV003089206
• dbSNP Id: rs2146599709
• COSMIC: COSM1123034
• MyVariant Identifiers: chrX:g.53432432C>T (hg19) ; chrX:g.53405500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405500C>T , CM000685.2:g.53405500C>T	GRCh38
NC_000023.10:g.53432432C>T , CM000685.1:g.53432432C>T	GRCh37
NC_000023.9:g.53449157C>T	NCBI36
NG_006988.2:g.22171G>A , LRG_773:g.22171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1904G>A MANE Select	ENSP00000323421.3:p.Arg635His
ENST00000674590.1:c.1136G>A	ENSP00000502626.1:p.Arg379His
ENST00000675065.1:n.1256G>A
ENST00000675504.1:c.1838G>A	ENSP00000502524.1:p.Arg613His
ENST00000322213.8:c.1904G>A	ENSP00000323421.3:p.Arg635His
ENST00000375340.10:c.1838G>A	ENSP00000364489.7:p.Arg613His
NM_001281463.1:c.1838G>A , LRG_773t1:c.1838G>A	NP_001268392.1:p.Arg613His
NM_006306.3:c.1904G>A , LRG_773t2:c.1904G>A	NP_006297.2:p.Arg635His
NM_006306.4:c.1904G>A MANE Select	NP_006297.2:p.Arg635His