Canonical Allele Identifier: CA413247503

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53394864C>T , CM000685.2:g.53394864C>T	GRCh38
NC_000023.10:g.53421784C>T , CM000685.1:g.53421784C>T	GRCh37
NC_000023.9:g.53438509C>T	NCBI36
NG_006988.2:g.32807G>A , LRG_773:g.32807G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006306.4:c.2887G>A MANE Select	NP_006297.2:p.Val963Met
ENST00000322213.9:c.2887G>A MANE Select	ENSP00000323421.3:p.Val963Met
NM_001281463.1:c.2821G>A , LRG_773t1:c.2821G>A	NP_001268392.1:p.Val941Met
NM_006306.3:c.2887G>A , LRG_773t2:c.2887G>A	NP_006297.2:p.Val963Met
ENST00000322213.8:c.2887G>A	ENSP00000323421.3:p.Val963Met
ENST00000375340.10:c.2821G>A	ENSP00000364489.7:p.Val941Met
ENST00000470241.2:c.177G>A
ENST00000674590.1:c.2119G>A	ENSP00000502626.1:p.Val707Met
ENST00000675504.1:c.2821G>A	ENSP00000502524.1:p.Val941Met