Canonical Allele Identifier: CA2610884125

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578768-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578768A>G , CM000672.2:g.110578768A>G	GRCh38
NC_000010.10:g.112338526A>G , CM000672.1:g.112338526A>G	GRCh37
NC_000010.9:g.112328516A>G	NCBI36
NG_012217.1:g.16078A>G , LRG_774:g.16078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+62A>G
ENST00000687823.1:n.343+62A>G
ENST00000689932.1:n.2492+62A>G
ENST00000691297.1:n.562+62A>G
ENST00000691527.1:n.1232+62A>G
ENST00000692792.1:n.548+62A>G
ENST00000361804.5:c.429+62A>G MANE Select	ENSP00000354720.5:n.429+62A>G
ENST00000361804.4:c.429+62A>G	ENSP00000354720.4:n.429+62A>G
ENST00000462899.1:n.575+62A>G
NM_005445.3:c.429+62A>G , LRG_774t1:c.429+62A>G	NP_005436.1:n.429+62A>G
NM_005445.4:c.429+62A>G MANE Select	NP_005436.1:n.429+62A>G