Canonical Allele Identifier: CA413243228

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2864811
• ClinVar RCV Id: RCV003626067
• MyVariant Identifiers: chrX:g.53409154T>G (hg19) ; chrX:g.53382233T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382233T>G , CM000685.2:g.53382233T>G	GRCh38
NC_000023.10:g.53409154T>G , CM000685.1:g.53409154T>G	GRCh37
NC_000023.9:g.53425879T>G	NCBI36
NG_006988.2:g.45438A>C , LRG_773:g.45438A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3436A>C MANE Select	ENSP00000323421.3:p.Ser1146Arg
ENST00000674590.1:c.2668A>C	ENSP00000502626.1:p.Ser890Arg
ENST00000675504.1:c.3370A>C	ENSP00000502524.1:p.Ser1124Arg
ENST00000322213.8:c.3436A>C	ENSP00000323421.3:p.Ser1146Arg
ENST00000375340.10:c.3370A>C	ENSP00000364489.7:p.Ser1124Arg
ENST00000469129.1:n.292A>C
ENST00000470241.2:c.726A>C
NM_001281463.1:c.3370A>C , LRG_773t1:c.3370A>C	NP_001268392.1:p.Ser1124Arg
NM_006306.3:c.3436A>C , LRG_773t2:c.3436A>C	NP_006297.2:p.Ser1146Arg
NM_006306.4:c.3436A>C MANE Select	NP_006297.2:p.Ser1146Arg