Canonical Allele Identifier: CA471370189

Gene: SMC3

Linked Data

• gnomAD v4: 10-110577484-C-A
• MyVariant Identifiers: chr10:g.112337242C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577484C>A , CM000672.2:g.110577484C>A	GRCh38
NC_000010.10:g.112337242C>A , CM000672.1:g.112337242C>A	GRCh37
NC_000010.9:g.112327232C>A	NCBI36
NG_012217.1:g.14794C>A , LRG_774:g.14794C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.395C>A
ENST00000687823.1:n.176C>A
ENST00000689932.1:n.2325C>A
ENST00000691297.1:n.395C>A
ENST00000691527.1:n.352C>A
ENST00000692792.1:n.381C>A
ENST00000361804.5:c.262C>A MANE Select	ENSP00000354720.5:p.Arg88=
ENST00000361804.4:c.262C>A	ENSP00000354720.4:p.Arg88=
ENST00000462899.1:n.408C>A
NM_005445.3:c.262C>A , LRG_774t1:c.262C>A	NP_005436.1:p.Arg88=
NM_005445.4:c.262C>A MANE Select	NP_005436.1:p.Arg88=