Canonical Allele Identifier: CA378393959
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601966T>A , CM000672.2:g.110601966T>A GRCh38
NC_000010.10:g.112361724T>A , CM000672.1:g.112361724T>A GRCh37
NC_000010.9:g.112351714T>A NCBI36
NG_012217.1:g.39276T>A , LRG_774:g.39276T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5126T>A
ENST00000685743.1:n.2601T>A
ENST00000686057.1:n.1244T>A
ENST00000689321.1:n.1856T>A
ENST00000689986.1:n.682T>A
ENST00000361804.5:c.2893T>A MANE Select ENSP00000354720.5:p.Leu965Met
ENST00000361804.4:c.2893T>A ENSP00000354720.4:p.Leu965Met
NM_005445.3:c.2893T>A , LRG_774t1:c.2893T>A NP_005436.1:p.Leu965Met
NM_005445.4:c.2893T>A MANE Select NP_005436.1:p.Leu965Met