Canonical Allele Identifier: CA10420620

Gene: SMC1A

Linked Data

• dbSNP Id: rs781887498
• ExAC: X:53439234 AG / A
• gnomAD v2: X-53439234-AG-A
• gnomAD v4: X-53412284-AG-A
• MyVariant Identifiers: chrX:g.53439235del (hg19) ; chrX:g.53412285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412285del , CM000685.2:g.53412285del	GRCh38
NC_000023.10:g.53439235del , CM000685.1:g.53439235del	GRCh37
NC_000023.9:g.53455960del	NCBI36
NG_006988.2:g.15386del , LRG_773:g.15386del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.855-32del MANE Select	ENSP00000323421.3:n.855-32del
ENST00000674590.1:c.346-384del	ENSP00000502626.1:n.346-384del
ENST00000675065.1:n.466-384del
ENST00000675504.1:c.789-32del	ENSP00000502524.1:n.789-32del
ENST00000322213.8:c.855-32del	ENSP00000323421.3:n.855-32del
ENST00000375340.10:c.789-32del	ENSP00000364489.7:n.789-32del
ENST00000463684.1:c.*388-32del	ENSP00000476958.1:n.*388-32del
NM_001281463.1:c.789-32del , LRG_773t1:c.789-32del	NP_001268392.1:n.789-32del
NM_006306.3:c.855-32del , LRG_773t2:c.855-32del	NP_006297.2:n.855-32del
NM_006306.4:c.855-32del MANE Select	NP_006297.2:n.855-32del