Canonical Allele Identifier: CA2429826606

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409218C= , CM000685.2:g.53409218C=	GRCh38
NC_000023.10:g.53436149C= , CM000685.1:g.53436149C=	GRCh37
NC_000023.9:g.53452874C=	NCBI36
NG_006988.2:g.18453G= , LRG_773:g.18453G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1389G= MANE Select	ENSP00000323421.3:p.Val463=
ENST00000674590.1:c.621G=	ENSP00000502626.1:p.Val207=
ENST00000675065.1:n.741G=
ENST00000675504.1:c.1323G=	ENSP00000502524.1:p.Val441=
ENST00000322213.8:c.1389G=	ENSP00000323421.3:p.Val463=
ENST00000375340.10:c.1323G=	ENSP00000364489.7:p.Val441=
NM_001281463.1:c.1323G= , LRG_773t1:c.1323G=	NP_001268392.1:p.Val441=
NM_006306.3:c.1389G= , LRG_773t2:c.1389G=	NP_006297.2:p.Val463=
NM_006306.4:c.1389G= MANE Select	NP_006297.2:p.Val463=