Canonical Allele Identifier: CA2429816954

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380671G= , CM000685.2:g.53380671G=	GRCh38
NC_000023.10:g.53407592G= , CM000685.1:g.53407592G=	GRCh37
NC_000023.9:g.53424317G=	NCBI36
NG_006988.2:g.47000C= , LRG_773:g.47000C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3567C= MANE Select	ENSP00000323421.3:p.Leu1189=
ENST00000674590.1:c.2799C=	ENSP00000502626.1:p.Leu933=
ENST00000675504.1:c.3501C=	ENSP00000502524.1:p.Leu1167=
ENST00000322213.8:c.3567C=	ENSP00000323421.3:p.Leu1189=
ENST00000375340.10:c.3501C=	ENSP00000364489.7:p.Leu1167=
ENST00000470241.2:c.787C=
NM_001281463.1:c.3501C= , LRG_773t1:c.3501C=	NP_001268392.1:p.Leu1167=
NM_006306.3:c.3567C= , LRG_773t2:c.3567C=	NP_006297.2:p.Leu1189=
NM_006306.4:c.3567C= MANE Select	NP_006297.2:p.Leu1189=