Canonical Allele Identifier: CA2429816945

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380641G= , CM000685.2:g.53380641G=	GRCh38
NC_000023.10:g.53407562G= , CM000685.1:g.53407562G=	GRCh37
NC_000023.9:g.53424287G=	NCBI36
NG_006988.2:g.47030C= , LRG_773:g.47030C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3597C= MANE Select	ENSP00000323421.3:p.Ser1199=
ENST00000674590.1:c.2829C=	ENSP00000502626.1:p.Ser943=
ENST00000675504.1:c.3531C=	ENSP00000502524.1:p.Ser1177=
ENST00000322213.8:c.3597C=	ENSP00000323421.3:p.Ser1199=
ENST00000375340.10:c.3531C=	ENSP00000364489.7:p.Ser1177=
ENST00000470241.2:c.817C=
NM_001281463.1:c.3531C= , LRG_773t1:c.3531C=	NP_001268392.1:p.Ser1177=
NM_006306.3:c.3597C= , LRG_773t2:c.3597C=	NP_006297.2:p.Ser1199=
NM_006306.4:c.3597C= MANE Select	NP_006297.2:p.Ser1199=