Canonical Allele Identifier: CA413255516

Gene: SMC1A

Linked Data

• dbSNP Id: rs2075701890
• MyVariant Identifiers: chrX:g.53436073T>C (hg19) ; chrX:g.53409142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409142T>C , CM000685.2:g.53409142T>C	GRCh38
NC_000023.10:g.53436073T>C , CM000685.1:g.53436073T>C	GRCh37
NC_000023.9:g.53452798T>C	NCBI36
NG_006988.2:g.18529A>G , LRG_773:g.18529A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1465A>G MANE Select	ENSP00000323421.3:p.Ile489Val
ENST00000674590.1:c.697A>G	ENSP00000502626.1:p.Ile233Val
ENST00000675065.1:n.817A>G
ENST00000675504.1:c.1399A>G	ENSP00000502524.1:p.Ile467Val
ENST00000322213.8:c.1465A>G	ENSP00000323421.3:p.Ile489Val
ENST00000375340.10:c.1399A>G	ENSP00000364489.7:p.Ile467Val
NM_001281463.1:c.1399A>G , LRG_773t1:c.1399A>G	NP_001268392.1:p.Ile467Val
NM_006306.3:c.1465A>G , LRG_773t2:c.1465A>G	NP_006297.2:p.Ile489Val
NM_006306.4:c.1465A>G MANE Select	NP_006297.2:p.Ile489Val