Canonical Allele Identifier: CA2429825337

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405650A= , CM000685.2:g.53405650A=	GRCh38
NC_000023.10:g.53432582A= , CM000685.1:g.53432582A=	GRCh37
NC_000023.9:g.53449307A=	NCBI36
NG_006988.2:g.22021T= , LRG_773:g.22021T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1754T= MANE Select	ENSP00000323421.3:p.Leu585=
ENST00000674590.1:c.986T=	ENSP00000502626.1:p.Leu329=
ENST00000675065.1:n.1106T=
ENST00000675504.1:c.1688T=	ENSP00000502524.1:p.Leu563=
ENST00000322213.8:c.1754T=	ENSP00000323421.3:p.Leu585=
ENST00000375340.10:c.1688T=	ENSP00000364489.7:p.Leu563=
NM_001281463.1:c.1688T= , LRG_773t1:c.1688T=	NP_001268392.1:p.Leu563=
NM_006306.3:c.1754T= , LRG_773t2:c.1754T=	NP_006297.2:p.Leu585=
NM_006306.4:c.1754T= MANE Select	NP_006297.2:p.Leu585=