Canonical Allele Identifier: CA413243733

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2577978
• ClinVar RCV Id: RCV003325384 ; RCV003512213
• MyVariant Identifiers: chrX:g.53409429G>A (hg19) ; chrX:g.53382508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382508G>A , CM000685.2:g.53382508G>A	GRCh38
NC_000023.10:g.53409429G>A , CM000685.1:g.53409429G>A	GRCh37
NC_000023.9:g.53426154G>A	NCBI36
NG_006988.2:g.45163C>T , LRG_773:g.45163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3283C>T MANE Select	ENSP00000323421.3:p.Gln1095Ter
ENST00000674590.1:c.2515C>T	ENSP00000502626.1:p.Gln839Ter
ENST00000675504.1:c.3217C>T	ENSP00000502524.1:p.Gln1073Ter
ENST00000322213.8:c.3283C>T	ENSP00000323421.3:p.Gln1095Ter
ENST00000375340.10:c.3217C>T	ENSP00000364489.7:p.Gln1073Ter
ENST00000469129.1:n.139C>T
ENST00000470241.2:c.573C>T
NM_001281463.1:c.3217C>T , LRG_773t1:c.3217C>T	NP_001268392.1:p.Gln1073Ter
NM_006306.3:c.3283C>T , LRG_773t2:c.3283C>T	NP_006297.2:p.Gln1095Ter
NM_006306.4:c.3283C>T MANE Select	NP_006297.2:p.Gln1095Ter