Canonical Allele Identifier: CA272540

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 159948
• ClinVar RCV Id: RCV000147558
• dbSNP Id: rs587784410
• MyVariant Identifiers: chrX:g.53430591A>T (hg19) ; chrX:g.53403659A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53403659A>T , CM000685.2:g.53403659A>T	GRCh38
NC_000023.10:g.53430591A>T , CM000685.1:g.53430591A>T	GRCh37
NC_000023.9:g.53447316A>T	NCBI36
NG_006988.2:g.24012T>A , LRG_773:g.24012T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.2327T>A MANE Select	ENSP00000323421.3:p.Val776Glu
ENST00000674590.1:c.1559T>A	ENSP00000502626.1:p.Val520Glu
ENST00000675504.1:c.2261T>A	ENSP00000502524.1:p.Val754Glu
ENST00000322213.8:c.2327T>A	ENSP00000323421.3:p.Val776Glu
ENST00000375340.10:c.2261T>A	ENSP00000364489.7:p.Val754Glu
NM_001281463.1:c.2261T>A , LRG_773t1:c.2261T>A	NP_001268392.1:p.Val754Glu
NM_006306.3:c.2327T>A , LRG_773t2:c.2327T>A	NP_006297.2:p.Val776Glu
NM_006306.4:c.2327T>A MANE Select	NP_006297.2:p.Val776Glu