Canonical Allele Identifier: CA378373839

Gene: SMC3

Linked Data

• dbSNP Id: rs1860990873
• gnomAD v4: 10-110578659-G-A
• MyVariant Identifiers: chr10:g.112338417G>A (hg19) ; chr10:g.110578659G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578659G>A , CM000672.2:g.110578659G>A	GRCh38
NC_000010.10:g.112338417G>A , CM000672.1:g.112338417G>A	GRCh37
NC_000010.9:g.112328407G>A	NCBI36
NG_012217.1:g.15969G>A , LRG_774:g.15969G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.515G>A
ENST00000687823.1:n.296G>A
ENST00000689932.1:n.2445G>A
ENST00000691297.1:n.515G>A
ENST00000691527.1:n.1185G>A
ENST00000692792.1:n.501G>A
ENST00000361804.5:c.382G>A MANE Select	ENSP00000354720.5:p.Ala128Thr
ENST00000361804.4:c.382G>A	ENSP00000354720.4:p.Ala128Thr
ENST00000462899.1:n.528G>A
NM_005445.3:c.382G>A , LRG_774t1:c.382G>A	NP_005436.1:p.Ala128Thr
NM_005445.4:c.382G>A MANE Select	NP_005436.1:p.Ala128Thr