Canonical Allele Identifier: CA413255735

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1721415
• ClinVar RCV Id: RCV002300404
• dbSNP Id: rs2075702239
• MyVariant Identifiers: chrX:g.53436168C>G (hg19) ; chrX:g.53409237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409237C>G , CM000685.2:g.53409237C>G	GRCh38
NC_000023.10:g.53436168C>G , CM000685.1:g.53436168C>G	GRCh37
NC_000023.9:g.53452893C>G	NCBI36
NG_006988.2:g.18434G>C , LRG_773:g.18434G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1370G>C MANE Select	ENSP00000323421.3:p.Gly457Ala
ENST00000674590.1:c.602G>C	ENSP00000502626.1:p.Gly201Ala
ENST00000675065.1:n.722G>C
ENST00000675504.1:c.1304G>C	ENSP00000502524.1:p.Gly435Ala
ENST00000322213.8:c.1370G>C	ENSP00000323421.3:p.Gly457Ala
ENST00000375340.10:c.1304G>C	ENSP00000364489.7:p.Gly435Ala
NM_001281463.1:c.1304G>C , LRG_773t1:c.1304G>C	NP_001268392.1:p.Gly435Ala
NM_006306.3:c.1370G>C , LRG_773t2:c.1370G>C	NP_006297.2:p.Gly457Ala
NM_006306.4:c.1370G>C MANE Select	NP_006297.2:p.Gly457Ala