Canonical Allele Identifier: CA10420258

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 929455
• ClinVar RCV Id: RCV001194642
• dbSNP Id: rs782175064
• ExAC: X:53407567 C / T
• gnomAD v4: X-53380646-C-T
• COSMIC: COSM1123023
• MyVariant Identifiers: chrX:g.53407567C>T (hg19) ; chrX:g.53380646C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380646C>T , CM000685.2:g.53380646C>T	GRCh38
NC_000023.10:g.53407567C>T , CM000685.1:g.53407567C>T	GRCh37
NC_000023.9:g.53424292C>T	NCBI36
NG_006988.2:g.47025G>A , LRG_773:g.47025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3592G>A MANE Select	ENSP00000323421.3:p.Glu1198Lys
ENST00000674590.1:c.2824G>A	ENSP00000502626.1:p.Glu942Lys
ENST00000675504.1:c.3526G>A	ENSP00000502524.1:p.Glu1176Lys
ENST00000322213.8:c.3592G>A	ENSP00000323421.3:p.Glu1198Lys
ENST00000375340.10:c.3526G>A	ENSP00000364489.7:p.Glu1176Lys
ENST00000470241.2:c.812G>A
NM_001281463.1:c.3526G>A , LRG_773t1:c.3526G>A	NP_001268392.1:p.Glu1176Lys
NM_006306.3:c.3592G>A , LRG_773t2:c.3592G>A	NP_006297.2:p.Glu1198Lys
NM_006306.4:c.3592G>A MANE Select	NP_006297.2:p.Glu1198Lys