Canonical Allele Identifier: CA2429828263

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53414689G= , CM000685.2:g.53414689G=	GRCh38
NC_000023.10:g.53441638G= , CM000685.1:g.53441638G=	GRCh37
NC_000023.9:g.53458363G=	NCBI36
NG_006988.2:g.12982C= , LRG_773:g.12982C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.411+69C= MANE Select	ENSP00000323421.3:n.411+69C=
ENST00000674590.1:c.345+69C=	ENSP00000502626.1:n.345+69C=
ENST00000675065.1:n.465+69C=
ENST00000675504.1:c.345+69C=	ENSP00000502524.1:n.345+69C=
ENST00000322213.8:c.411+69C=	ENSP00000323421.3:n.411+69C=
ENST00000375340.10:c.345+69C=	ENSP00000364489.7:n.345+69C=
ENST00000428014.1:c.345+69C=	ENSP00000413509.2:n.345+69C=
ENST00000463684.1:c.110-1254C=	ENSP00000476958.1:n.110-1254C=
NM_001281463.1:c.345+69C= , LRG_773t1:c.345+69C=	NP_001268392.1:n.345+69C=
NM_006306.3:c.411+69C= , LRG_773t2:c.411+69C=	NP_006297.2:n.411+69C=
NM_006306.4:c.411+69C= MANE Select	NP_006297.2:n.411+69C=