Canonical Allele Identifier: CA413243763

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53409435T>G (hg19) ; chrX:g.53382514T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382514T>G , CM000685.2:g.53382514T>G	GRCh38
NC_000023.10:g.53409435T>G , CM000685.1:g.53409435T>G	GRCh37
NC_000023.9:g.53426160T>G	NCBI36
NG_006988.2:g.45157A>C , LRG_773:g.45157A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3277A>C MANE Select	ENSP00000323421.3:p.Ser1093Arg
ENST00000674590.1:c.2509A>C	ENSP00000502626.1:p.Ser837Arg
ENST00000675504.1:c.3211A>C	ENSP00000502524.1:p.Ser1071Arg
ENST00000322213.8:c.3277A>C	ENSP00000323421.3:p.Ser1093Arg
ENST00000375340.10:c.3211A>C	ENSP00000364489.7:p.Ser1071Arg
ENST00000469129.1:n.133A>C
ENST00000470241.2:c.567A>C
NM_001281463.1:c.3211A>C , LRG_773t1:c.3211A>C	NP_001268392.1:p.Ser1071Arg
NM_006306.3:c.3277A>C , LRG_773t2:c.3277A>C	NP_006297.2:p.Ser1093Arg
NM_006306.4:c.3277A>C MANE Select	NP_006297.2:p.Ser1093Arg