Canonical Allele Identifier: CA16608948

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 393123
• ClinVar RCV Id: RCV000441064
• dbSNP Id: rs1057524798
• MyVariant Identifiers: chrX:g.53407591T>C (hg19) ; chrX:g.53380670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380670T>C , CM000685.2:g.53380670T>C	GRCh38
NC_000023.10:g.53407591T>C , CM000685.1:g.53407591T>C	GRCh37
NC_000023.9:g.53424316T>C	NCBI36
NG_006988.2:g.47001A>G , LRG_773:g.47001A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.3568A>G MANE Select	ENSP00000323421.3:p.Lys1190Glu
ENST00000674590.1:c.2800A>G	ENSP00000502626.1:p.Lys934Glu
ENST00000675504.1:c.3502A>G	ENSP00000502524.1:p.Lys1168Glu
ENST00000322213.8:c.3568A>G	ENSP00000323421.3:p.Lys1190Glu
ENST00000375340.10:c.3502A>G	ENSP00000364489.7:p.Lys1168Glu
ENST00000470241.2:c.788A>G
NM_001281463.1:c.3502A>G , LRG_773t1:c.3502A>G	NP_001268392.1:p.Lys1168Glu
NM_006306.3:c.3568A>G , LRG_773t2:c.3568A>G	NP_006297.2:p.Lys1190Glu
NM_006306.4:c.3568A>G MANE Select	NP_006297.2:p.Lys1190Glu