Canonical Allele Identifier: CA378377428

Gene: SMC3

Linked Data

• gnomAD v4: 10-110582075-G-A
• MyVariant Identifiers: chr10:g.112341833G>A (hg19) ; chr10:g.110582075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582075G>A , CM000672.2:g.110582075G>A	GRCh38
NC_000010.10:g.112341833G>A , CM000672.1:g.112341833G>A	GRCh37
NC_000010.9:g.112331823G>A	NCBI36
NG_012217.1:g.19385G>A , LRG_774:g.19385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.833G>A
ENST00000687823.1:n.614G>A
ENST00000689932.1:n.2763G>A
ENST00000691297.1:n.833G>A
ENST00000691527.1:n.1503G>A
ENST00000692792.1:n.819G>A
ENST00000361804.5:c.700G>A MANE Select	ENSP00000354720.5:p.Glu234Lys
ENST00000361804.4:c.700G>A	ENSP00000354720.4:p.Glu234Lys
NM_005445.3:c.700G>A , LRG_774t1:c.700G>A	NP_005436.1:p.Glu234Lys
NM_005445.4:c.700G>A MANE Select	NP_005436.1:p.Glu234Lys