Canonical Allele Identifier: CA2610883228

Gene: SMC3

Linked Data

• gnomAD v4: 10-110577522-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577522G>T , CM000672.2:g.110577522G>T	GRCh38
NC_000010.10:g.112337280G>T , CM000672.1:g.112337280G>T	GRCh37
NC_000010.9:g.112327270G>T	NCBI36
NG_012217.1:g.14832G>T , LRG_774:g.14832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.403+30G>T
ENST00000687823.1:n.184+30G>T
ENST00000689932.1:n.2333+30G>T
ENST00000691297.1:n.403+30G>T
ENST00000691527.1:n.360+30G>T
ENST00000692792.1:n.389+30G>T
ENST00000361804.5:c.270+30G>T MANE Select	ENSP00000354720.5:n.270+30G>T
ENST00000361804.4:c.270+30G>T	ENSP00000354720.4:n.270+30G>T
ENST00000462899.1:n.416+30G>T
NM_005445.3:c.270+30G>T , LRG_774t1:c.270+30G>T	NP_005436.1:n.270+30G>T
NM_005445.4:c.270+30G>T MANE Select	NP_005436.1:n.270+30G>T