Canonical Allele Identifier: CA213226636

Gene: SMC3

Linked Data

• dbSNP Id: rs879158286
• MyVariant Identifiers: chr10:g.112335118A>C (hg19) ; chr10:g.110575360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575360A>C , CM000672.2:g.110575360A>C	GRCh38
NC_000010.10:g.112335118A>C , CM000672.1:g.112335118A>C	GRCh37
NC_000010.9:g.112325108A>C	NCBI36
NG_012217.1:g.12670A>C , LRG_774:g.12670A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.288A>C
ENST00000687823.1:n.69A>C
ENST00000689932.1:n.2218A>C
ENST00000691297.1:n.288A>C
ENST00000691527.1:n.245A>C
ENST00000692792.1:n.274A>C
ENST00000361804.5:c.155A>C MANE Select	ENSP00000354720.5:p.Glu52Ala
ENST00000361804.4:c.155A>C	ENSP00000354720.4:p.Glu52Ala
ENST00000462899.1:n.301A>C
NM_005445.3:c.155A>C , LRG_774t1:c.155A>C	NP_005436.1:p.Glu52Ala
NM_005445.4:c.155A>C MANE Select	NP_005436.1:p.Glu52Ala