Canonical Allele Identifier: CA413255738

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1992219
• ClinVar RCV Id: RCV002795849
• gnomAD v4: X-53409238-C-G
• MyVariant Identifiers: chrX:g.53436169C>G (hg19) ; chrX:g.53409238C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409238C>G , CM000685.2:g.53409238C>G	GRCh38
NC_000023.10:g.53436169C>G , CM000685.1:g.53436169C>G	GRCh37
NC_000023.9:g.53452894C>G	NCBI36
NG_006988.2:g.18433G>C , LRG_773:g.18433G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1369G>C MANE Select	ENSP00000323421.3:p.Gly457Arg
ENST00000674590.1:c.601G>C	ENSP00000502626.1:p.Gly201Arg
ENST00000675065.1:n.721G>C
ENST00000675504.1:c.1303G>C	ENSP00000502524.1:p.Gly435Arg
ENST00000322213.8:c.1369G>C	ENSP00000323421.3:p.Gly457Arg
ENST00000375340.10:c.1303G>C	ENSP00000364489.7:p.Gly435Arg
NM_001281463.1:c.1303G>C , LRG_773t1:c.1303G>C	NP_001268392.1:p.Gly435Arg
NM_006306.3:c.1369G>C , LRG_773t2:c.1369G>C	NP_006297.2:p.Gly457Arg
NM_006306.4:c.1369G>C MANE Select	NP_006297.2:p.Gly457Arg