Canonical Allele Identifier: CA2429817480

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382545A= , CM000685.2:g.53382545A=	GRCh38
NC_000023.10:g.53409466A= , CM000685.1:g.53409466A=	GRCh37
NC_000023.9:g.53426191A=	NCBI36
NG_006988.2:g.45126T= , LRG_773:g.45126T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3246T= MANE Select	ENSP00000323421.3:p.Asp1082=
ENST00000674590.1:c.2478T=	ENSP00000502626.1:p.Asp826=
ENST00000675504.1:c.3180T=	ENSP00000502524.1:p.Asp1060=
ENST00000322213.8:c.3246T=	ENSP00000323421.3:p.Asp1082=
ENST00000375340.10:c.3180T=	ENSP00000364489.7:p.Asp1060=
ENST00000469129.1:n.102T=
ENST00000470241.2:c.536T=
NM_001281463.1:c.3180T= , LRG_773t1:c.3180T=	NP_001268392.1:p.Asp1060=
NM_006306.3:c.3246T= , LRG_773t2:c.3246T=	NP_006297.2:p.Asp1082=
NM_006306.4:c.3246T= MANE Select	NP_006297.2:p.Asp1082=