Canonical Allele Identifier: CA378377319

Gene: SMC3

Linked Data

• COSMIC: COSM2151270
• MyVariant Identifiers: chr10:g.112341821C>G (hg19) ; chr10:g.110582063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582063C>G , CM000672.2:g.110582063C>G	GRCh38
NC_000010.10:g.112341821C>G , CM000672.1:g.112341821C>G	GRCh37
NC_000010.9:g.112331811C>G	NCBI36
NG_012217.1:g.19373C>G , LRG_774:g.19373C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.821C>G
ENST00000687823.1:n.602C>G
ENST00000689932.1:n.2751C>G
ENST00000691297.1:n.821C>G
ENST00000691527.1:n.1491C>G
ENST00000692792.1:n.807C>G
ENST00000361804.5:c.688C>G MANE Select	ENSP00000354720.5:p.Gln230Glu
ENST00000361804.4:c.688C>G	ENSP00000354720.4:p.Gln230Glu
NM_005445.3:c.688C>G , LRG_774t1:c.688C>G	NP_005436.1:p.Gln230Glu
NM_005445.4:c.688C>G MANE Select	NP_005436.1:p.Gln230Glu