Canonical Allele Identifier: CA5687768

Gene: SMC3

Linked Data

• ClinVar Variation Id: 259771
• ClinVar RCV Id: RCV000247349 ; RCV001651191
• dbSNP Id: rs2275570
• ExAC: 10:112341636 A / C
• gnomAD v2: 10-112341636-A-C
• gnomAD v3: 10-110581878-A-C
• gnomAD v4: 10-110581878-A-C
• MyVariant Identifiers: chr10:g.112341636A>C (hg19) ; chr10:g.110581878A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110581878A>C , CM000672.2:g.110581878A>C	GRCh38
NC_000010.10:g.112341636A>C , CM000672.1:g.112341636A>C	GRCh37
NC_000010.9:g.112331626A>C	NCBI36
NG_012217.1:g.19188A>C , LRG_774:g.19188A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.681-45A>C
ENST00000687823.1:n.462-45A>C
ENST00000689932.1:n.2611-45A>C
ENST00000691297.1:n.681-45A>C
ENST00000691527.1:n.1351-45A>C
ENST00000692792.1:n.667-45A>C
ENST00000361804.5:c.548-45A>C MANE Select	ENSP00000354720.5:n.548-45A>C
ENST00000361804.4:c.548-45A>C	ENSP00000354720.4:n.548-45A>C
ENST00000462899.1:n.694-45A>C
NM_005445.3:c.548-45A>C , LRG_774t1:c.548-45A>C	NP_005436.1:n.548-45A>C
NM_005445.4:c.548-45A>C MANE Select	NP_005436.1:n.548-45A>C