Canonical Allele Identifier: CA413243604

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1464457
• ClinVar RCV Id: RCV001975460
• dbSNP Id: rs2146582465
• MyVariant Identifiers: chrX:g.53409285T>C (hg19) ; chrX:g.53382364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382364T>C , CM000685.2:g.53382364T>C	GRCh38
NC_000023.10:g.53409285T>C , CM000685.1:g.53409285T>C	GRCh37
NC_000023.9:g.53426010T>C	NCBI36
NG_006988.2:g.45307A>G , LRG_773:g.45307A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3305A>G MANE Select	ENSP00000323421.3:p.Asn1102Ser
ENST00000674590.1:c.2537A>G	ENSP00000502626.1:p.Asn846Ser
ENST00000675504.1:c.3239A>G	ENSP00000502524.1:p.Asn1080Ser
ENST00000322213.8:c.3305A>G	ENSP00000323421.3:p.Asn1102Ser
ENST00000375340.10:c.3239A>G	ENSP00000364489.7:p.Asn1080Ser
ENST00000469129.1:n.161A>G
ENST00000470241.2:c.595A>G
NM_001281463.1:c.3239A>G , LRG_773t1:c.3239A>G	NP_001268392.1:p.Asn1080Ser
NM_006306.3:c.3305A>G , LRG_773t2:c.3305A>G	NP_006297.2:p.Asn1102Ser
NM_006306.4:c.3305A>G MANE Select	NP_006297.2:p.Asn1102Ser