Canonical Allele Identifier: CA2429826616

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409243A= , CM000685.2:g.53409243A=	GRCh38
NC_000023.10:g.53436174A= , CM000685.1:g.53436174A=	GRCh37
NC_000023.9:g.53452899A=	NCBI36
NG_006988.2:g.18428T= , LRG_773:g.18428T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1364T= MANE Select	ENSP00000323421.3:p.Leu455=
ENST00000674590.1:c.596T=	ENSP00000502626.1:p.Leu199=
ENST00000675065.1:n.716T=
ENST00000675504.1:c.1298T=	ENSP00000502524.1:p.Leu433=
ENST00000322213.8:c.1364T=	ENSP00000323421.3:p.Leu455=
ENST00000375340.10:c.1298T=	ENSP00000364489.7:p.Leu433=
NM_001281463.1:c.1298T= , LRG_773t1:c.1298T=	NP_001268392.1:p.Leu433=
NM_006306.3:c.1364T= , LRG_773t2:c.1364T=	NP_006297.2:p.Leu455=
NM_006306.4:c.1364T= MANE Select	NP_006297.2:p.Leu455=