Canonical Allele Identifier: CA2429827502

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412067C= , CM000685.2:g.53412067C=	GRCh38
NC_000023.10:g.53439017C= , CM000685.1:g.53439017C=	GRCh37
NC_000023.9:g.53455742C=	NCBI36
NG_006988.2:g.15604G= , LRG_773:g.15604G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.1041G= MANE Select	ENSP00000323421.3:p.Arg347=
ENST00000674590.1:c.346-166G=	ENSP00000502626.1:n.346-166G=
ENST00000675065.1:n.466-166G=
ENST00000675504.1:c.975G=	ENSP00000502524.1:p.Arg325=
ENST00000322213.8:c.1041G=	ENSP00000323421.3:p.Arg347=
ENST00000375340.10:c.975G=	ENSP00000364489.7:p.Arg325=
ENST00000463684.1:c.*574G=	ENSP00000476958.1:n.*574G=
NM_001281463.1:c.975G= , LRG_773t1:c.975G=	NP_001268392.1:p.Arg325=
NM_006306.3:c.1041G= , LRG_773t2:c.1041G=	NP_006297.2:p.Arg347=
NM_006306.4:c.1041G= MANE Select	NP_006297.2:p.Arg347=