Canonical Allele Identifier: CA413255499

Gene: SMC1A

Linked Data

• dbSNP Id: rs1556890141
• gnomAD v2: X-53436066-C-T
• gnomAD v3: X-53409135-C-T
• gnomAD v4: X-53409135-C-T
• COSMIC: COSM1468553
• MyVariant Identifiers: chrX:g.53436066C>T (hg19) ; chrX:g.53409135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409135C>T , CM000685.2:g.53409135C>T	GRCh38
NC_000023.10:g.53436066C>T , CM000685.1:g.53436066C>T	GRCh37
NC_000023.9:g.53452791C>T	NCBI36
NG_006988.2:g.18536G>A , LRG_773:g.18536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1472G>A MANE Select	ENSP00000323421.3:p.Arg491His
ENST00000674590.1:c.704G>A	ENSP00000502626.1:p.Arg235His
ENST00000675065.1:n.824G>A
ENST00000675504.1:c.1406G>A	ENSP00000502524.1:p.Arg469His
ENST00000322213.8:c.1472G>A	ENSP00000323421.3:p.Arg491His
ENST00000375340.10:c.1406G>A	ENSP00000364489.7:p.Arg469His
NM_001281463.1:c.1406G>A , LRG_773t1:c.1406G>A	NP_001268392.1:p.Arg469His
NM_006306.3:c.1472G>A , LRG_773t2:c.1472G>A	NP_006297.2:p.Arg491His
NM_006306.4:c.1472G>A MANE Select	NP_006297.2:p.Arg491His