Canonical Allele Identifier: CA378369358
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573728A>G , CM000672.2:g.110573728A>G GRCh38
NC_000010.10:g.112333486A>G , CM000672.1:g.112333486A>G GRCh37
NC_000010.9:g.112323476A>G NCBI36
NG_012217.1:g.11038A>G , LRG_774:g.11038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.246A>G
ENST00000687823.1:n.45-1608A>G
ENST00000689932.1:n.586A>G
ENST00000691297.1:n.246A>G
ENST00000691527.1:n.203A>G
ENST00000692792.1:n.232A>G
ENST00000361804.5:c.113A>G MANE Select ENSP00000354720.5:p.Lys38Arg
ENST00000361804.4:c.113A>G ENSP00000354720.4:p.Lys38Arg
ENST00000462899.1:n.259A>G
NM_005445.3:c.113A>G , LRG_774t1:c.113A>G NP_005436.1:p.Lys38Arg
NM_005445.4:c.113A>G MANE Select NP_005436.1:p.Lys38Arg