Canonical Allele Identifier: CA2610887897

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573869-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573869G>T , CM000672.2:g.110573869G>T	GRCh38
NC_000010.10:g.112333627G>T , CM000672.1:g.112333627G>T	GRCh37
NC_000010.9:g.112323617G>T	NCBI36
NG_012217.1:g.11179G>T , LRG_774:g.11179G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+124G>T
ENST00000687823.1:n.45-1467G>T
ENST00000689932.1:n.727G>T
ENST00000691297.1:n.263+124G>T
ENST00000691527.1:n.220+124G>T
ENST00000692792.1:n.249+124G>T
ENST00000361804.5:c.130+124G>T MANE Select	ENSP00000354720.5:n.130+124G>T
ENST00000361804.4:c.130+124G>T	ENSP00000354720.4:n.130+124G>T
ENST00000462899.1:n.276+124G>T
NM_005445.3:c.130+124G>T , LRG_774t1:c.130+124G>T	NP_005436.1:n.130+124G>T
NM_005445.4:c.130+124G>T MANE Select	NP_005436.1:n.130+124G>T