Canonical Allele Identifier: CA413131844

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 432073
• ClinVar RCV Id: RCV000498677
• dbSNP Id: rs1556891059
• MyVariant Identifiers: chrX:g.53441807T>C (hg19) ; chrX:g.53414858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53414858T>C , CM000685.2:g.53414858T>C	GRCh38
NC_000023.10:g.53441807T>C , CM000685.1:g.53441807T>C	GRCh37
NC_000023.9:g.53458532T>C	NCBI36
NG_006988.2:g.12813A>G , LRG_773:g.12813A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.311A>G MANE Select	ENSP00000323421.3:p.Glu104Gly
ENST00000674590.1:c.245A>G	ENSP00000502626.1:p.Glu82Gly
ENST00000675065.1:n.365A>G
ENST00000675504.1:c.245A>G	ENSP00000502524.1:p.Glu82Gly
ENST00000322213.8:c.311A>G	ENSP00000323421.3:p.Glu104Gly
ENST00000375340.10:c.245A>G	ENSP00000364489.7:p.Glu82Gly
ENST00000428014.1:c.245A>G	ENSP00000413509.2:p.Glu82Gly
ENST00000463684.1:c.110-1423A>G	ENSP00000476958.1:n.110-1423A>G
NM_001281463.1:c.245A>G , LRG_773t1:c.245A>G	NP_001268392.1:p.Glu82Gly
NM_006306.3:c.311A>G , LRG_773t2:c.311A>G	NP_006297.2:p.Glu104Gly
NM_006306.4:c.311A>G MANE Select	NP_006297.2:p.Glu104Gly