Canonical Allele Identifier: CA413252173

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 619027
• ClinVar RCV Id: RCV000757943
• dbSNP Id: rs1569356968
• MyVariant Identifiers: chrX:g.53432200C>A (hg19) ; chrX:g.53405268C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405268C>A , CM000685.2:g.53405268C>A	GRCh38
NC_000023.10:g.53432200C>A , CM000685.1:g.53432200C>A	GRCh37
NC_000023.9:g.53448925C>A	NCBI36
NG_006988.2:g.22403G>T , LRG_773:g.22403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2035G>T MANE Select	ENSP00000323421.3:p.Glu679Ter
ENST00000674590.1:c.1267G>T	ENSP00000502626.1:p.Glu423Ter
ENST00000675065.1:n.1387G>T
ENST00000675504.1:c.1969G>T	ENSP00000502524.1:p.Glu657Ter
ENST00000322213.8:c.2035G>T	ENSP00000323421.3:p.Glu679Ter
ENST00000375340.10:c.1969G>T	ENSP00000364489.7:p.Glu657Ter
NM_001281463.1:c.1969G>T , LRG_773t1:c.1969G>T	NP_001268392.1:p.Glu657Ter
NM_006306.3:c.2035G>T , LRG_773t2:c.2035G>T	NP_006297.2:p.Glu679Ter
NM_006306.4:c.2035G>T MANE Select	NP_006297.2:p.Glu679Ter