Canonical Allele Identifier: CA471368021

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573820-T-G
• MyVariant Identifiers: chr10:g.112333578T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573820T>G , CM000672.2:g.110573820T>G	GRCh38
NC_000010.10:g.112333578T>G , CM000672.1:g.112333578T>G	GRCh37
NC_000010.9:g.112323568T>G	NCBI36
NG_012217.1:g.11130T>G , LRG_774:g.11130T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+75T>G
ENST00000687823.1:n.45-1516T>G
ENST00000689932.1:n.678T>G
ENST00000691297.1:n.263+75T>G
ENST00000691527.1:n.220+75T>G
ENST00000692792.1:n.249+75T>G
ENST00000361804.5:c.130+75T>G MANE Select	ENSP00000354720.5:n.130+75T>G
ENST00000361804.4:c.130+75T>G	ENSP00000354720.4:n.130+75T>G
ENST00000462899.1:n.276+75T>G
NM_005445.3:c.130+75T>G , LRG_774t1:c.130+75T>G	NP_005436.1:n.130+75T>G
NM_005445.4:c.130+75T>G MANE Select	NP_005436.1:n.130+75T>G