Canonical Allele Identifier: CA595712940

Gene: SMC3

Linked Data

• dbSNP Id: rs1188302247
• gnomAD v2: 10-112338316-C-G
• gnomAD v3: 10-110578558-C-G
• gnomAD v4: 10-110578558-C-G
• MyVariant Identifiers: chr10:g.112338316C>G (hg19) ; chr10:g.110578558C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578558C>G , CM000672.2:g.110578558C>G	GRCh38
NC_000010.10:g.112338316C>G , CM000672.1:g.112338316C>G	GRCh37
NC_000010.9:g.112328306C>G	NCBI36
NG_012217.1:g.15868C>G , LRG_774:g.15868C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.484-70C>G
ENST00000687823.1:n.265-70C>G
ENST00000689932.1:n.2414-70C>G
ENST00000691297.1:n.484-70C>G
ENST00000691527.1:n.1084C>G
ENST00000692792.1:n.470-70C>G
ENST00000361804.5:c.351-70C>G MANE Select	ENSP00000354720.5:n.351-70C>G
ENST00000361804.4:c.351-70C>G	ENSP00000354720.4:n.351-70C>G
ENST00000462899.1:n.497-70C>G
NM_005445.3:c.351-70C>G , LRG_774t1:c.351-70C>G	NP_005436.1:n.351-70C>G
NM_005445.4:c.351-70C>G MANE Select	NP_005436.1:n.351-70C>G