Canonical Allele Identifier: CA10420556

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2063365
• ClinVar RCV Id: RCV002948400
• dbSNP Id: rs782521146
• ExAC: X:53436130 T / C
• gnomAD v2: X-53436130-T-C
• gnomAD v3: X-53409199-T-C
• gnomAD v4: X-53409199-T-C
• MyVariant Identifiers: chrX:g.53436130T>C (hg19) ; chrX:g.53409199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409199T>C , CM000685.2:g.53409199T>C	GRCh38
NC_000023.10:g.53436130T>C , CM000685.1:g.53436130T>C	GRCh37
NC_000023.9:g.53452855T>C	NCBI36
NG_006988.2:g.18472A>G , LRG_773:g.18472A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1408A>G MANE Select	ENSP00000323421.3:p.Ile470Val
ENST00000674590.1:c.640A>G	ENSP00000502626.1:p.Ile214Val
ENST00000675065.1:n.760A>G
ENST00000675504.1:c.1342A>G	ENSP00000502524.1:p.Ile448Val
ENST00000322213.8:c.1408A>G	ENSP00000323421.3:p.Ile470Val
ENST00000375340.10:c.1342A>G	ENSP00000364489.7:p.Ile448Val
NM_001281463.1:c.1342A>G , LRG_773t1:c.1342A>G	NP_001268392.1:p.Ile448Val
NM_006306.3:c.1408A>G , LRG_773t2:c.1408A>G	NP_006297.2:p.Ile470Val
NM_006306.4:c.1408A>G MANE Select	NP_006297.2:p.Ile470Val