Canonical Allele Identifier: CA413258115

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53439199T>C (hg19) ; chrX:g.53412249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412249T>C , CM000685.2:g.53412249T>C	GRCh38
NC_000023.10:g.53439199T>C , CM000685.1:g.53439199T>C	GRCh37
NC_000023.9:g.53455924T>C	NCBI36
NG_006988.2:g.15422A>G , LRG_773:g.15422A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.859A>G MANE Select	ENSP00000323421.3:p.Lys287Glu
ENST00000674590.1:c.346-348A>G	ENSP00000502626.1:n.346-348A>G
ENST00000675065.1:n.466-348A>G
ENST00000675504.1:c.793A>G	ENSP00000502524.1:p.Lys265Glu
ENST00000322213.8:c.859A>G	ENSP00000323421.3:p.Lys287Glu
ENST00000375340.10:c.793A>G	ENSP00000364489.7:p.Lys265Glu
ENST00000463684.1:c.*392A>G	ENSP00000476958.1:n.*392A>G
NM_001281463.1:c.793A>G , LRG_773t1:c.793A>G	NP_001268392.1:p.Lys265Glu
NM_006306.3:c.859A>G , LRG_773t2:c.859A>G	NP_006297.2:p.Lys287Glu
NM_006306.4:c.859A>G MANE Select	NP_006297.2:p.Lys287Glu