Canonical Allele Identifier: CA378377210
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110582045G>A , CM000672.2:g.110582045G>A GRCh38
NC_000010.10:g.112341803G>A , CM000672.1:g.112341803G>A GRCh37
NC_000010.9:g.112331793G>A NCBI36
NG_012217.1:g.19355G>A , LRG_774:g.19355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.803G>A
ENST00000687823.1:n.584G>A
ENST00000689932.1:n.2733G>A
ENST00000691297.1:n.803G>A
ENST00000691527.1:n.1473G>A
ENST00000692792.1:n.789G>A
ENST00000361804.5:c.670G>A MANE Select ENSP00000354720.5:p.Glu224Lys
ENST00000361804.4:c.670G>A ENSP00000354720.4:p.Glu224Lys
NM_005445.3:c.670G>A , LRG_774t1:c.670G>A NP_005436.1:p.Glu224Lys
NM_005445.4:c.670G>A MANE Select NP_005436.1:p.Glu224Lys