Canonical Allele Identifier: CA2574670575

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573735-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573742dup , CM000672.2:g.110573742dup	GRCh38
NC_000010.10:g.112333500dup , CM000672.1:g.112333500dup	GRCh37
NC_000010.9:g.112323490dup	NCBI36
NG_012217.1:g.11052dup , LRG_774:g.11052dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.260dup
ENST00000687823.1:n.45-1594dup
ENST00000689932.1:n.600dup
ENST00000691297.1:n.260dup
ENST00000691527.1:n.217dup
ENST00000692792.1:n.246dup
ENST00000361804.5:c.127dup MANE Select	ENSP00000354720.5:p.Tyr43LeufsTer9
ENST00000361804.4:c.127dup	ENSP00000354720.4:p.Tyr43LeufsTer9
ENST00000462899.1:n.273dup
NM_005445.3:c.127dup , LRG_774t1:c.127dup	NP_005436.1:p.Tyr43LeufsTer9
NM_005445.4:c.127dup MANE Select	NP_005436.1:p.Tyr43LeufsTer9