Canonical Allele Identifier: CA2429816955

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380680G= , CM000685.2:g.53380680G=	GRCh38
NC_000023.10:g.53407601G= , CM000685.1:g.53407601G=	GRCh37
NC_000023.9:g.53424326G=	NCBI36
NG_006988.2:g.46991C= , LRG_773:g.46991C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.3558C= MANE Select	ENSP00000323421.3:p.Val1186=
ENST00000674590.1:c.2790C=	ENSP00000502626.1:p.Val930=
ENST00000675504.1:c.3492C=	ENSP00000502524.1:p.Val1164=
ENST00000322213.8:c.3558C=	ENSP00000323421.3:p.Val1186=
ENST00000375340.10:c.3492C=	ENSP00000364489.7:p.Val1164=
ENST00000470241.2:c.778C=
NM_001281463.1:c.3492C= , LRG_773t1:c.3492C=	NP_001268392.1:p.Val1164=
NM_006306.3:c.3558C= , LRG_773t2:c.3558C=	NP_006297.2:p.Val1186=
NM_006306.4:c.3558C= MANE Select	NP_006297.2:p.Val1186=