Canonical Allele Identifier: CA329906109

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1249413
• ClinVar RCV Id: RCV001656934
• dbSNP Id: rs112088716
• gnomAD v2: X-53408897-C-T
• gnomAD v3: X-53381976-C-T
• gnomAD v4: X-53381976-C-T
• MyVariant Identifiers: chrX:g.53408897C>T (hg19) ; chrX:g.53381976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53381976C>T , CM000685.2:g.53381976C>T	GRCh38
NC_000023.10:g.53408897C>T , CM000685.1:g.53408897C>T	GRCh37
NC_000023.9:g.53425622C>T	NCBI36
NG_006988.2:g.45695G>A , LRG_773:g.45695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+256G>A MANE Select	ENSP00000323421.3:n.3437+256G>A
ENST00000674590.1:c.2669+256G>A	ENSP00000502626.1:n.2669+256G>A
ENST00000675504.1:c.3371+256G>A	ENSP00000502524.1:n.3371+256G>A
ENST00000322213.8:c.3437+256G>A	ENSP00000323421.3:n.3437+256G>A
ENST00000375340.10:c.3371+256G>A	ENSP00000364489.7:n.3371+256G>A
ENST00000469129.1:n.549G>A
ENST00000470241.2:c.727+256G>A
NM_001281463.1:c.3371+256G>A , LRG_773t1:c.3371+256G>A	NP_001268392.1:n.3371+256G>A
NM_006306.3:c.3437+256G>A , LRG_773t2:c.3437+256G>A	NP_006297.2:n.3437+256G>A
NM_006306.4:c.3437+256G>A MANE Select	NP_006297.2:n.3437+256G>A