Canonical Allele Identifier: CA413242058

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53407585C>T (hg19) ; chrX:g.53380664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380664C>T , CM000685.2:g.53380664C>T	GRCh38
NC_000023.10:g.53407585C>T , CM000685.1:g.53407585C>T	GRCh37
NC_000023.9:g.53424310C>T	NCBI36
NG_006988.2:g.47007G>A , LRG_773:g.47007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3574G>A MANE Select	ENSP00000323421.3:p.Glu1192Lys
ENST00000674590.1:c.2806G>A	ENSP00000502626.1:p.Glu936Lys
ENST00000675504.1:c.3508G>A	ENSP00000502524.1:p.Glu1170Lys
ENST00000322213.8:c.3574G>A	ENSP00000323421.3:p.Glu1192Lys
ENST00000375340.10:c.3508G>A	ENSP00000364489.7:p.Glu1170Lys
ENST00000470241.2:c.794G>A
NM_001281463.1:c.3508G>A , LRG_773t1:c.3508G>A	NP_001268392.1:p.Glu1170Lys
NM_006306.3:c.3574G>A , LRG_773t2:c.3574G>A	NP_006297.2:p.Glu1192Lys
NM_006306.4:c.3574G>A MANE Select	NP_006297.2:p.Glu1192Lys