Canonical Allele Identifier: CA213225428

Gene: SMC3

Linked Data

• dbSNP Id: rs576093398
• gnomAD v2: 10-112333263-C-G
• gnomAD v3: 10-110573505-C-G
• gnomAD v4: 10-110573505-C-G
• MyVariant Identifiers: chr10:g.112333263C>G (hg19) ; chr10:g.110573505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573505C>G , CM000672.2:g.110573505C>G	GRCh38
NC_000010.10:g.112333263C>G , CM000672.1:g.112333263C>G	GRCh37
NC_000010.9:g.112323253C>G	NCBI36
NG_012217.1:g.10815C>G , LRG_774:g.10815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.225-202C>G
ENST00000687823.1:n.45-1831C>G
ENST00000689932.1:n.363C>G
ENST00000691297.1:n.225-202C>G
ENST00000691527.1:n.182-202C>G
ENST00000692792.1:n.211-202C>G
ENST00000361804.5:c.92-202C>G MANE Select	ENSP00000354720.5:n.92-202C>G
ENST00000361804.4:c.92-202C>G	ENSP00000354720.4:n.92-202C>G
ENST00000462899.1:n.238-202C>G
NM_005445.3:c.92-202C>G , LRG_774t1:c.92-202C>G	NP_005436.1:n.92-202C>G
NM_005445.4:c.92-202C>G MANE Select	NP_005436.1:n.92-202C>G