Canonical Allele Identifier: CA413252924

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1361761
• ClinVar RCV Id: RCV003136223 ; RCV001931947
• dbSNP Id: rs2146599772
• MyVariant Identifiers: chrX:g.53432492T>C (hg19) ; chrX:g.53405560T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405560T>C , CM000685.2:g.53405560T>C	GRCh38
NC_000023.10:g.53432492T>C , CM000685.1:g.53432492T>C	GRCh37
NC_000023.9:g.53449217T>C	NCBI36
NG_006988.2:g.22111A>G , LRG_773:g.22111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1844A>G MANE Select	ENSP00000323421.3:p.Asn615Ser
ENST00000674590.1:c.1076A>G	ENSP00000502626.1:p.Asn359Ser
ENST00000675065.1:n.1196A>G
ENST00000675504.1:c.1778A>G	ENSP00000502524.1:p.Asn593Ser
ENST00000322213.8:c.1844A>G	ENSP00000323421.3:p.Asn615Ser
ENST00000375340.10:c.1778A>G	ENSP00000364489.7:p.Asn593Ser
NM_001281463.1:c.1778A>G , LRG_773t1:c.1778A>G	NP_001268392.1:p.Asn593Ser
NM_006306.3:c.1844A>G , LRG_773t2:c.1844A>G	NP_006297.2:p.Asn615Ser
NM_006306.4:c.1844A>G MANE Select	NP_006297.2:p.Asn615Ser