Canonical Allele Identifier: CA413252852

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1313912
• ClinVar RCV Id: RCV001771143
• dbSNP Id: rs2146599756
• gnomAD v4: X-53405542-T-C
• MyVariant Identifiers: chrX:g.53432474T>C (hg19) ; chrX:g.53405542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405542T>C , CM000685.2:g.53405542T>C	GRCh38
NC_000023.10:g.53432474T>C , CM000685.1:g.53432474T>C	GRCh37
NC_000023.9:g.53449199T>C	NCBI36
NG_006988.2:g.22129A>G , LRG_773:g.22129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1862A>G MANE Select	ENSP00000323421.3:p.Asn621Ser
ENST00000674590.1:c.1094A>G	ENSP00000502626.1:p.Asn365Ser
ENST00000675065.1:n.1214A>G
ENST00000675504.1:c.1796A>G	ENSP00000502524.1:p.Asn599Ser
ENST00000322213.8:c.1862A>G	ENSP00000323421.3:p.Asn621Ser
ENST00000375340.10:c.1796A>G	ENSP00000364489.7:p.Asn599Ser
NM_001281463.1:c.1796A>G , LRG_773t1:c.1796A>G	NP_001268392.1:p.Asn599Ser
NM_006306.3:c.1862A>G , LRG_773t2:c.1862A>G	NP_006297.2:p.Asn621Ser
NM_006306.4:c.1862A>G MANE Select	NP_006297.2:p.Asn621Ser