Canonical Allele Identifier: CA378393362
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601639T>G , CM000672.2:g.110601639T>G GRCh38
NC_000010.10:g.112361397T>G , CM000672.1:g.112361397T>G GRCh37
NC_000010.9:g.112351387T>G NCBI36
NG_012217.1:g.38949T>G , LRG_774:g.38949T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.4880T>G
ENST00000685743.1:n.2355T>G
ENST00000686057.1:n.998T>G
ENST00000689321.1:n.1610T>G
ENST00000689986.1:n.436T>G
ENST00000361804.5:c.2647T>G MANE Select ENSP00000354720.5:p.Leu883Val
ENST00000361804.4:c.2647T>G ENSP00000354720.4:p.Leu883Val
NM_005445.3:c.2647T>G , LRG_774t1:c.2647T>G NP_005436.1:p.Leu883Val
NM_005445.4:c.2647T>G MANE Select NP_005436.1:p.Leu883Val