Canonical Allele Identifier: CA378387595

Gene: SMC3

Linked Data

• ClinVar Variation Id: 981413
• ClinVar RCV Id: RCV001260834 ; RCV001879997
• dbSNP Id: rs1861180567
• gnomAD v3: 10-110589899-T-C
• gnomAD v4: 10-110589899-T-C
• MyVariant Identifiers: chr10:g.112349657T>C (hg19) ; chr10:g.110589899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589899T>C , CM000672.2:g.110589899T>C	GRCh38
NC_000010.10:g.112349657T>C , CM000672.1:g.112349657T>C	GRCh37
NC_000010.9:g.112339647T>C	NCBI36
NG_012217.1:g.27209T>C , LRG_774:g.27209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1317T>C
ENST00000684988.1:n.2062T>C
ENST00000687823.1:n.1331T>C
ENST00000689932.1:n.3480T>C
ENST00000691297.1:n.1550T>C
ENST00000691527.1:n.2220T>C
ENST00000692792.1:n.1536T>C
ENST00000361804.5:c.1417T>C MANE Select	ENSP00000354720.5:p.Trp473Arg
ENST00000361804.4:c.1417T>C	ENSP00000354720.4:p.Trp473Arg
NM_005445.3:c.1417T>C , LRG_774t1:c.1417T>C	NP_005436.1:p.Trp473Arg
NM_005445.4:c.1417T>C MANE Select	NP_005436.1:p.Trp473Arg