Canonical Allele Identifier: CA595711446

Gene: SMC3

Linked Data

• dbSNP Id: rs1191312446
• gnomAD v2: 10-112333542-T-G
• gnomAD v4: 10-110573784-T-G
• MyVariant Identifiers: chr10:g.112333542T>G (hg19) ; chr10:g.110573784T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573784T>G , CM000672.2:g.110573784T>G	GRCh38
NC_000010.10:g.112333542T>G , CM000672.1:g.112333542T>G	GRCh37
NC_000010.9:g.112323532T>G	NCBI36
NG_012217.1:g.11094T>G , LRG_774:g.11094T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+39T>G
ENST00000687823.1:n.45-1552T>G
ENST00000689932.1:n.642T>G
ENST00000691297.1:n.263+39T>G
ENST00000691527.1:n.220+39T>G
ENST00000692792.1:n.249+39T>G
ENST00000361804.5:c.130+39T>G MANE Select	ENSP00000354720.5:n.130+39T>G
ENST00000361804.4:c.130+39T>G	ENSP00000354720.4:n.130+39T>G
ENST00000462899.1:n.276+39T>G
NM_005445.3:c.130+39T>G , LRG_774t1:c.130+39T>G	NP_005436.1:n.130+39T>G
NM_005445.4:c.130+39T>G MANE Select	NP_005436.1:n.130+39T>G