Canonical Allele Identifier: CA213225413

Gene: SMC3

Linked Data

• dbSNP Id: rs142140000
• gnomAD v3: 10-110573442-A-G
• gnomAD v4: 10-110573442-A-G
• MyVariant Identifiers: chr10:g.112333200A>G (hg19) ; chr10:g.110573442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573442A>G , CM000672.2:g.110573442A>G	GRCh38
NC_000010.10:g.112333200A>G , CM000672.1:g.112333200A>G	GRCh37
NC_000010.9:g.112323190A>G	NCBI36
NG_012217.1:g.10752A>G , LRG_774:g.10752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225-265A>G
ENST00000687823.1:n.45-1894A>G
ENST00000689932.1:n.300A>G
ENST00000691297.1:n.225-265A>G
ENST00000691527.1:n.182-265A>G
ENST00000692792.1:n.211-265A>G
ENST00000361804.5:c.92-265A>G MANE Select	ENSP00000354720.5:n.92-265A>G
ENST00000361804.4:c.92-265A>G	ENSP00000354720.4:n.92-265A>G
ENST00000462899.1:n.238-265A>G
NM_005445.3:c.92-265A>G , LRG_774t1:c.92-265A>G	NP_005436.1:n.92-265A>G
NM_005445.4:c.92-265A>G MANE Select	NP_005436.1:n.92-265A>G