Canonical Allele Identifier: CA378373820

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578655-A-C
• MyVariant Identifiers: chr10:g.112338413A>C (hg19) ; chr10:g.110578655A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578655A>C , CM000672.2:g.110578655A>C	GRCh38
NC_000010.10:g.112338413A>C , CM000672.1:g.112338413A>C	GRCh37
NC_000010.9:g.112328403A>C	NCBI36
NG_012217.1:g.15965A>C , LRG_774:g.15965A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.511A>C
ENST00000687823.1:n.292A>C
ENST00000689932.1:n.2441A>C
ENST00000691297.1:n.511A>C
ENST00000691527.1:n.1181A>C
ENST00000692792.1:n.497A>C
ENST00000361804.5:c.378A>C MANE Select	ENSP00000354720.5:p.Glu126Asp
ENST00000361804.4:c.378A>C	ENSP00000354720.4:p.Glu126Asp
ENST00000462899.1:n.524A>C
NM_005445.3:c.378A>C , LRG_774t1:c.378A>C	NP_005436.1:p.Glu126Asp
NM_005445.4:c.378A>C MANE Select	NP_005436.1:p.Glu126Asp