Canonical Allele Identifier: CA2429825228

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405229A= , CM000685.2:g.53405229A=	GRCh38
NC_000023.10:g.53432161A= , CM000685.1:g.53432161A=	GRCh37
NC_000023.9:g.53448886A=	NCBI36
NG_006988.2:g.22442T= , LRG_773:g.22442T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2058+16T= MANE Select	ENSP00000323421.3:n.2058+16T=
ENST00000674590.1:c.1290+16T=	ENSP00000502626.1:n.1290+16T=
ENST00000675065.1:n.1410+16T=
ENST00000675504.1:c.1992+16T=	ENSP00000502524.1:n.1992+16T=
ENST00000322213.8:c.2058+16T=	ENSP00000323421.3:n.2058+16T=
ENST00000375340.10:c.1992+16T=	ENSP00000364489.7:n.1992+16T=
NM_001281463.1:c.1992+16T= , LRG_773t1:c.1992+16T=	NP_001268392.1:n.1992+16T=
NM_006306.3:c.2058+16T= , LRG_773t2:c.2058+16T=	NP_006297.2:n.2058+16T=
NM_006306.4:c.2058+16T= MANE Select	NP_006297.2:n.2058+16T=