Canonical Allele Identifier: CA2429816952

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380668C= , CM000685.2:g.53380668C=	GRCh38
NC_000023.10:g.53407589C= , CM000685.1:g.53407589C=	GRCh37
NC_000023.9:g.53424314C=	NCBI36
NG_006988.2:g.47003G= , LRG_773:g.47003G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3570G= MANE Select	ENSP00000323421.3:p.Lys1190=
ENST00000674590.1:c.2802G=	ENSP00000502626.1:p.Lys934=
ENST00000675504.1:c.3504G=	ENSP00000502524.1:p.Lys1168=
ENST00000322213.8:c.3570G=	ENSP00000323421.3:p.Lys1190=
ENST00000375340.10:c.3504G=	ENSP00000364489.7:p.Lys1168=
ENST00000470241.2:c.790G=
NM_001281463.1:c.3504G= , LRG_773t1:c.3504G=	NP_001268392.1:p.Lys1168=
NM_006306.3:c.3570G= , LRG_773t2:c.3570G=	NP_006297.2:p.Lys1190=
NM_006306.4:c.3570G= MANE Select	NP_006297.2:p.Lys1190=