Canonical Allele Identifier: CA2429817479

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382544C= , CM000685.2:g.53382544C=	GRCh38
NC_000023.10:g.53409465C= , CM000685.1:g.53409465C=	GRCh37
NC_000023.9:g.53426190C=	NCBI36
NG_006988.2:g.45127G= , LRG_773:g.45127G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3247G= MANE Select	ENSP00000323421.3:p.Glu1083=
ENST00000674590.1:c.2479G=	ENSP00000502626.1:p.Glu827=
ENST00000675504.1:c.3181G=	ENSP00000502524.1:p.Glu1061=
ENST00000322213.8:c.3247G=	ENSP00000323421.3:p.Glu1083=
ENST00000375340.10:c.3181G=	ENSP00000364489.7:p.Glu1061=
ENST00000469129.1:n.103G=
ENST00000470241.2:c.537G=
NM_001281463.1:c.3181G= , LRG_773t1:c.3181G=	NP_001268392.1:p.Glu1061=
NM_006306.3:c.3247G= , LRG_773t2:c.3247G=	NP_006297.2:p.Glu1083=
NM_006306.4:c.3247G= MANE Select	NP_006297.2:p.Glu1083=