Canonical Allele Identifier: CA378393639
Gene: SMC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 633420
ClinVar RCV Id: RCV000781857
dbSNP Id: rs1564795916

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601753G>C , CM000672.2:g.110601753G>C GRCh38
NC_000010.10:g.112361511G>C , CM000672.1:g.112361511G>C GRCh37
NC_000010.9:g.112351501G>C NCBI36
NG_012217.1:g.39063G>C , LRG_774:g.39063G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.4994G>C
ENST00000685743.1:n.2469G>C
ENST00000686057.1:n.1112G>C
ENST00000689321.1:n.1724G>C
ENST00000689986.1:n.550G>C
ENST00000361804.5:c.2761G>C MANE Select ENSP00000354720.5:p.Glu921Gln
ENST00000361804.4:c.2761G>C ENSP00000354720.4:p.Glu921Gln
NM_005445.3:c.2761G>C , LRG_774t1:c.2761G>C NP_005436.1:p.Glu921Gln
NM_005445.4:c.2761G>C MANE Select NP_005436.1:p.Glu921Gln