Canonical Allele Identifier: CA378373836

Gene: SMC3

Linked Data

• ClinVar Variation Id: 695033
• ClinVar RCV Id: RCV000857247 ; RCV003372893
• dbSNP Id: rs748876063
• MyVariant Identifiers: chr10:g.112338416C>G (hg19) ; chr10:g.110578658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578658C>G , CM000672.2:g.110578658C>G	GRCh38
NC_000010.10:g.112338416C>G , CM000672.1:g.112338416C>G	GRCh37
NC_000010.9:g.112328406C>G	NCBI36
NG_012217.1:g.15968C>G , LRG_774:g.15968C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.514C>G
ENST00000687823.1:n.295C>G
ENST00000689932.1:n.2444C>G
ENST00000691297.1:n.514C>G
ENST00000691527.1:n.1184C>G
ENST00000692792.1:n.500C>G
ENST00000361804.5:c.381C>G MANE Select	ENSP00000354720.5:p.Ser127Arg
ENST00000361804.4:c.381C>G	ENSP00000354720.4:p.Ser127Arg
ENST00000462899.1:n.527C>G
NM_005445.3:c.381C>G , LRG_774t1:c.381C>G	NP_005436.1:p.Ser127Arg
NM_005445.4:c.381C>G MANE Select	NP_005436.1:p.Ser127Arg