Canonical Allele Identifier: CA378387730
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589919A>C , CM000672.2:g.110589919A>C GRCh38
NC_000010.10:g.112349677A>C , CM000672.1:g.112349677A>C GRCh37
NC_000010.9:g.112339667A>C NCBI36
NG_012217.1:g.27229A>C , LRG_774:g.27229A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684797.1:n.1337A>C
ENST00000684988.1:n.2082A>C
ENST00000687823.1:n.1351A>C
ENST00000689932.1:n.3500A>C
ENST00000691297.1:n.1570A>C
ENST00000691527.1:n.2240A>C
ENST00000692792.1:n.1556A>C
ENST00000361804.5:c.1437A>C MANE Select ENSP00000354720.5:p.Glu479Asp
ENST00000361804.4:c.1437A>C ENSP00000354720.4:p.Glu479Asp
NM_005445.3:c.1437A>C , LRG_774t1:c.1437A>C NP_005436.1:p.Glu479Asp
NM_005445.4:c.1437A>C MANE Select NP_005436.1:p.Glu479Asp