Canonical Allele Identifier: CA2610884198

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578802-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578802G>A , CM000672.2:g.110578802G>A	GRCh38
NC_000010.10:g.112338560G>A , CM000672.1:g.112338560G>A	GRCh37
NC_000010.9:g.112328550G>A	NCBI36
NG_012217.1:g.16112G>A , LRG_774:g.16112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+96G>A
ENST00000687823.1:n.343+96G>A
ENST00000689932.1:n.2492+96G>A
ENST00000691297.1:n.562+96G>A
ENST00000691527.1:n.1232+96G>A
ENST00000692792.1:n.548+96G>A
ENST00000361804.5:c.429+96G>A MANE Select	ENSP00000354720.5:n.429+96G>A
ENST00000361804.4:c.429+96G>A	ENSP00000354720.4:n.429+96G>A
ENST00000462899.1:n.575+96G>A
NM_005445.3:c.429+96G>A , LRG_774t1:c.429+96G>A	NP_005436.1:n.429+96G>A
NM_005445.4:c.429+96G>A MANE Select	NP_005436.1:n.429+96G>A