Canonical Allele Identifier: CA378377250
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110582054A>G , CM000672.2:g.110582054A>G GRCh38
NC_000010.10:g.112341812A>G , CM000672.1:g.112341812A>G GRCh37
NC_000010.9:g.112331802A>G NCBI36
NG_012217.1:g.19364A>G , LRG_774:g.19364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.812A>G
ENST00000687823.1:n.593A>G
ENST00000689932.1:n.2742A>G
ENST00000691297.1:n.812A>G
ENST00000691527.1:n.1482A>G
ENST00000692792.1:n.798A>G
ENST00000361804.5:c.679A>G MANE Select ENSP00000354720.5:p.Ile227Val
ENST00000361804.4:c.679A>G ENSP00000354720.4:p.Ile227Val
NM_005445.3:c.679A>G , LRG_774t1:c.679A>G NP_005436.1:p.Ile227Val
NM_005445.4:c.679A>G MANE Select NP_005436.1:p.Ile227Val