Canonical Allele Identifier: CA10420272

Gene: SMC1A

Linked Data

• dbSNP Id: rs782361939
• ExAC: X:53407691 C / T
• gnomAD v2: X-53407691-C-T
• MyVariant Identifiers: chrX:g.53407691C>T (hg19) ; chrX:g.53380770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380770C>T , CM000685.2:g.53380770C>T	GRCh38
NC_000023.10:g.53407691C>T , CM000685.1:g.53407691C>T	GRCh37
NC_000023.9:g.53424416C>T	NCBI36
NG_006988.2:g.46901G>A , LRG_773:g.46901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3508-40G>A MANE Select	ENSP00000323421.3:n.3508-40G>A
ENST00000674590.1:c.2740-40G>A	ENSP00000502626.1:n.2740-40G>A
ENST00000675504.1:c.3442-40G>A	ENSP00000502524.1:n.3442-40G>A
ENST00000322213.8:c.3508-40G>A	ENSP00000323421.3:n.3508-40G>A
ENST00000375340.10:c.3442-40G>A	ENSP00000364489.7:n.3442-40G>A
ENST00000470241.2:c.728-40G>A
NM_001281463.1:c.3442-40G>A , LRG_773t1:c.3442-40G>A	NP_001268392.1:n.3442-40G>A
NM_006306.3:c.3508-40G>A , LRG_773t2:c.3508-40G>A	NP_006297.2:n.3508-40G>A
NM_006306.4:c.3508-40G>A MANE Select	NP_006297.2:n.3508-40G>A