Canonical Allele Identifier: CA378376066

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112341729G>A (hg19) ; chr10:g.110581971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110581971G>A , CM000672.2:g.110581971G>A	GRCh38
NC_000010.10:g.112341729G>A , CM000672.1:g.112341729G>A	GRCh37
NC_000010.9:g.112331719G>A	NCBI36
NG_012217.1:g.19281G>A , LRG_774:g.19281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.729G>A
ENST00000687823.1:n.510G>A
ENST00000689932.1:n.2659G>A
ENST00000691297.1:n.729G>A
ENST00000691527.1:n.1399G>A
ENST00000692792.1:n.715G>A
ENST00000361804.5:c.596G>A MANE Select	ENSP00000354720.5:p.Arg199Lys
ENST00000361804.4:c.596G>A	ENSP00000354720.4:p.Arg199Lys
ENST00000462899.1:n.742G>A
NM_005445.3:c.596G>A , LRG_774t1:c.596G>A	NP_005436.1:p.Arg199Lys
NM_005445.4:c.596G>A MANE Select	NP_005436.1:p.Arg199Lys