Canonical Allele Identifier: CA876270039

Gene: SMC1A

Linked Data

• dbSNP Id: rs1408125933
• MyVariant Identifiers: chrX:g.53380755_53380756insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380756dup , CM000685.2:g.53380756dup	GRCh38
NC_000023.10:g.53407677dup , CM000685.1:g.53407677dup	GRCh37
NC_000023.9:g.53424402dup	NCBI36
NG_006988.2:g.46915dup , LRG_773:g.46915dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3508-26dup MANE Select	ENSP00000323421.3:n.3508-26dup
ENST00000674590.1:c.2740-26dup	ENSP00000502626.1:n.2740-26dup
ENST00000675504.1:c.3442-26dup	ENSP00000502524.1:n.3442-26dup
ENST00000322213.8:c.3508-26dup	ENSP00000323421.3:n.3508-26dup
ENST00000375340.10:c.3442-26dup	ENSP00000364489.7:n.3442-26dup
ENST00000470241.2:c.728-26dup
NM_001281463.1:c.3442-26dup , LRG_773t1:c.3442-26dup	NP_001268392.1:n.3442-26dup
NM_006306.3:c.3508-26dup , LRG_773t2:c.3508-26dup	NP_006297.2:n.3508-26dup
NM_006306.4:c.3508-26dup MANE Select	NP_006297.2:n.3508-26dup