Canonical Allele Identifier: CA413250889

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53403566C>T , CM000685.2:g.53403566C>T	GRCh38
NC_000023.10:g.53430498C>T , CM000685.1:g.53430498C>T	GRCh37
NC_000023.9:g.53447223C>T	NCBI36
NG_006988.2:g.24105G>A , LRG_773:g.24105G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006306.4:c.2420G>A MANE Select	NP_006297.2:p.Arg807His
ENST00000322213.9:c.2420G>A MANE Select	ENSP00000323421.3:p.Arg807His
NM_001281463.1:c.2354G>A , LRG_773t1:c.2354G>A	NP_001268392.1:p.Arg785His
NM_006306.3:c.2420G>A , LRG_773t2:c.2420G>A	NP_006297.2:p.Arg807His
ENST00000322213.8:c.2420G>A	ENSP00000323421.3:p.Arg807His
ENST00000375340.10:c.2354G>A	ENSP00000364489.7:p.Arg785His
ENST00000674590.1:c.1652G>A	ENSP00000502626.1:p.Arg551His
ENST00000675504.1:c.2354G>A	ENSP00000502524.1:p.Arg785His