Canonical Allele Identifier: CA2574670747

Gene: SMC3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578775T>C , CM000672.2:g.110578775T>C	GRCh38
NC_000010.10:g.112338533T>C , CM000672.1:g.112338533T>C	GRCh37
NC_000010.9:g.112328523T>C	NCBI36
NG_012217.1:g.16085T>C , LRG_774:g.16085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+69T>C
ENST00000687823.1:n.343+69T>C
ENST00000689932.1:n.2492+69T>C
ENST00000691297.1:n.562+69T>C
ENST00000691527.1:n.1232+69T>C
ENST00000692792.1:n.548+69T>C
ENST00000361804.5:c.429+69T>C MANE Select	ENSP00000354720.5:n.429+69T>C
ENST00000361804.4:c.429+69T>C	ENSP00000354720.4:n.429+69T>C
ENST00000462899.1:n.575+69T>C
NM_005445.3:c.429+69T>C , LRG_774t1:c.429+69T>C	NP_005436.1:n.429+69T>C
NM_005445.4:c.429+69T>C MANE Select	NP_005436.1:n.429+69T>C