Canonical Allele Identifier: CA471370180

Gene: SMC3

Linked Data

• gnomAD v4: 10-110577462-T-A
• MyVariant Identifiers: chr10:g.112337220T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577462T>A , CM000672.2:g.110577462T>A	GRCh38
NC_000010.10:g.112337220T>A , CM000672.1:g.112337220T>A	GRCh37
NC_000010.9:g.112327210T>A	NCBI36
NG_012217.1:g.14772T>A , LRG_774:g.14772T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.373T>A
ENST00000687823.1:n.154T>A
ENST00000689932.1:n.2303T>A
ENST00000691297.1:n.373T>A
ENST00000691527.1:n.330T>A
ENST00000692792.1:n.359T>A
ENST00000361804.5:c.240T>A MANE Select	ENSP00000354720.5:p.Ile80=
ENST00000361804.4:c.240T>A	ENSP00000354720.4:p.Ile80=
ENST00000462899.1:n.386T>A
NM_005445.3:c.240T>A , LRG_774t1:c.240T>A	NP_005436.1:p.Ile80=
NM_005445.4:c.240T>A MANE Select	NP_005436.1:p.Ile80=