Canonical Allele Identifier: CA378372016
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110577484C>G , CM000672.2:g.110577484C>G GRCh38
NC_000010.10:g.112337242C>G , CM000672.1:g.112337242C>G GRCh37
NC_000010.9:g.112327232C>G NCBI36
NG_012217.1:g.14794C>G , LRG_774:g.14794C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.395C>G
ENST00000687823.1:n.176C>G
ENST00000689932.1:n.2325C>G
ENST00000691297.1:n.395C>G
ENST00000691527.1:n.352C>G
ENST00000692792.1:n.381C>G
ENST00000361804.5:c.262C>G MANE Select ENSP00000354720.5:p.Arg88Gly
ENST00000361804.4:c.262C>G ENSP00000354720.4:p.Arg88Gly
ENST00000462899.1:n.408C>G
NM_005445.3:c.262C>G , LRG_774t1:c.262C>G NP_005436.1:p.Arg88Gly
NM_005445.4:c.262C>G MANE Select NP_005436.1:p.Arg88Gly