Canonical Allele Identifier: CA413243745

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 2739624
• ClinVar RCV Id: RCV003513780
• MyVariant Identifiers: chrX:g.53409432C>T (hg19) ; chrX:g.53382511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382511C>T , CM000685.2:g.53382511C>T	GRCh38
NC_000023.10:g.53409432C>T , CM000685.1:g.53409432C>T	GRCh37
NC_000023.9:g.53426157C>T	NCBI36
NG_006988.2:g.45160G>A , LRG_773:g.45160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3280G>A MANE Select	ENSP00000323421.3:p.Ala1094Thr
ENST00000674590.1:c.2512G>A	ENSP00000502626.1:p.Ala838Thr
ENST00000675504.1:c.3214G>A	ENSP00000502524.1:p.Ala1072Thr
ENST00000322213.8:c.3280G>A	ENSP00000323421.3:p.Ala1094Thr
ENST00000375340.10:c.3214G>A	ENSP00000364489.7:p.Ala1072Thr
ENST00000469129.1:n.136G>A
ENST00000470241.2:c.570G>A
NM_001281463.1:c.3214G>A , LRG_773t1:c.3214G>A	NP_001268392.1:p.Ala1072Thr
NM_006306.3:c.3280G>A , LRG_773t2:c.3280G>A	NP_006297.2:p.Ala1094Thr
NM_006306.4:c.3280G>A MANE Select	NP_006297.2:p.Ala1094Thr