Canonical Allele Identifier: CA595711456

Gene: SMC3

Linked Data

• dbSNP Id: rs1458819307
• gnomAD v2: 10-112333555-G-A
• gnomAD v4: 10-110573797-G-A
• MyVariant Identifiers: chr10:g.112333555G>A (hg19) ; chr10:g.110573797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573797G>A , CM000672.2:g.110573797G>A	GRCh38
NC_000010.10:g.112333555G>A , CM000672.1:g.112333555G>A	GRCh37
NC_000010.9:g.112323545G>A	NCBI36
NG_012217.1:g.11107G>A , LRG_774:g.11107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+52G>A
ENST00000687823.1:n.45-1539G>A
ENST00000689932.1:n.655G>A
ENST00000691297.1:n.263+52G>A
ENST00000691527.1:n.220+52G>A
ENST00000692792.1:n.249+52G>A
ENST00000361804.5:c.130+52G>A MANE Select	ENSP00000354720.5:n.130+52G>A
ENST00000361804.4:c.130+52G>A	ENSP00000354720.4:n.130+52G>A
ENST00000462899.1:n.276+52G>A
NM_005445.3:c.130+52G>A , LRG_774t1:c.130+52G>A	NP_005436.1:n.130+52G>A
NM_005445.4:c.130+52G>A MANE Select	NP_005436.1:n.130+52G>A