Canonical Allele Identifier: CA378373854

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578660-C-A
• MyVariant Identifiers: chr10:g.112338418C>A (hg19) ; chr10:g.110578660C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578660C>A , CM000672.2:g.110578660C>A	GRCh38
NC_000010.10:g.112338418C>A , CM000672.1:g.112338418C>A	GRCh37
NC_000010.9:g.112328408C>A	NCBI36
NG_012217.1:g.15970C>A , LRG_774:g.15970C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.516C>A
ENST00000687823.1:n.297C>A
ENST00000689932.1:n.2446C>A
ENST00000691297.1:n.516C>A
ENST00000691527.1:n.1186C>A
ENST00000692792.1:n.502C>A
ENST00000361804.5:c.383C>A MANE Select	ENSP00000354720.5:p.Ala128Asp
ENST00000361804.4:c.383C>A	ENSP00000354720.4:p.Ala128Asp
ENST00000462899.1:n.529C>A
NM_005445.3:c.383C>A , LRG_774t1:c.383C>A	NP_005436.1:p.Ala128Asp
NM_005445.4:c.383C>A MANE Select	NP_005436.1:p.Ala128Asp