Canonical Allele Identifier: CA378373872

Gene: SMC3

Linked Data

• ClinVar Variation Id: 1721143
• ClinVar RCV Id: RCV002294841
• MyVariant Identifiers: chr10:g.112338421G>T (hg19) ; chr10:g.110578663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578663G>T , CM000672.2:g.110578663G>T	GRCh38
NC_000010.10:g.112338421G>T , CM000672.1:g.112338421G>T	GRCh37
NC_000010.9:g.112328411G>T	NCBI36
NG_012217.1:g.15973G>T , LRG_774:g.15973G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.519G>T
ENST00000687823.1:n.300G>T
ENST00000689932.1:n.2449G>T
ENST00000691297.1:n.519G>T
ENST00000691527.1:n.1189G>T
ENST00000692792.1:n.505G>T
ENST00000361804.5:c.386G>T MANE Select	ENSP00000354720.5:p.Gly129Val
ENST00000361804.4:c.386G>T	ENSP00000354720.4:p.Gly129Val
ENST00000462899.1:n.532G>T
NM_005445.3:c.386G>T , LRG_774t1:c.386G>T	NP_005436.1:p.Gly129Val
NM_005445.4:c.386G>T MANE Select	NP_005436.1:p.Gly129Val