Canonical Allele Identifier: CA413252981

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2436144
• ClinVar RCV Id: RCV003136894 ; RCV003396913
• MyVariant Identifiers: chrX:g.53432507T>C (hg19) ; chrX:g.53405575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405575T>C , CM000685.2:g.53405575T>C	GRCh38
NC_000023.10:g.53432507T>C , CM000685.1:g.53432507T>C	GRCh37
NC_000023.9:g.53449232T>C	NCBI36
NG_006988.2:g.22096A>G , LRG_773:g.22096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1829A>G MANE Select	ENSP00000323421.3:p.Gln610Arg
ENST00000674590.1:c.1061A>G	ENSP00000502626.1:p.Gln354Arg
ENST00000675065.1:n.1181A>G
ENST00000675504.1:c.1763A>G	ENSP00000502524.1:p.Gln588Arg
ENST00000322213.8:c.1829A>G	ENSP00000323421.3:p.Gln610Arg
ENST00000375340.10:c.1763A>G	ENSP00000364489.7:p.Gln588Arg
NM_001281463.1:c.1763A>G , LRG_773t1:c.1763A>G	NP_001268392.1:p.Gln588Arg
NM_006306.3:c.1829A>G , LRG_773t2:c.1829A>G	NP_006297.2:p.Gln610Arg
NM_006306.4:c.1829A>G MANE Select	NP_006297.2:p.Gln610Arg