Canonical Allele Identifier: CA378394365
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602132T>A , CM000672.2:g.110602132T>A GRCh38
NC_000010.10:g.112361890T>A , CM000672.1:g.112361890T>A GRCh37
NC_000010.9:g.112351880T>A NCBI36
NG_012217.1:g.39442T>A , LRG_774:g.39442T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5292T>A
ENST00000685743.1:n.2767T>A
ENST00000686057.1:n.1410T>A
ENST00000689321.1:n.2022T>A
ENST00000689986.1:n.848T>A
ENST00000361804.5:c.3059T>A MANE Select ENSP00000354720.5:p.Val1020Glu
ENST00000361804.4:c.3059T>A ENSP00000354720.4:p.Val1020Glu
NM_005445.3:c.3059T>A , LRG_774t1:c.3059T>A NP_005436.1:p.Val1020Glu
NM_005445.4:c.3059T>A MANE Select NP_005436.1:p.Val1020Glu