Canonical Allele Identifier: CA378387942

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349700G>T (hg19) ; chr10:g.110589942G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589942G>T , CM000672.2:g.110589942G>T	GRCh38
NC_000010.10:g.112349700G>T , CM000672.1:g.112349700G>T	GRCh37
NC_000010.9:g.112339690G>T	NCBI36
NG_012217.1:g.27252G>T , LRG_774:g.27252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1360G>T
ENST00000684988.1:n.2105G>T
ENST00000687823.1:n.1374G>T
ENST00000689932.1:n.3523G>T
ENST00000691297.1:n.1593G>T
ENST00000691527.1:n.2263G>T
ENST00000692792.1:n.1579G>T
ENST00000361804.5:c.1460G>T MANE Select	ENSP00000354720.5:p.Arg487Ile
ENST00000361804.4:c.1460G>T	ENSP00000354720.4:p.Arg487Ile
NM_005445.3:c.1460G>T , LRG_774t1:c.1460G>T	NP_005436.1:p.Arg487Ile
NM_005445.4:c.1460G>T MANE Select	NP_005436.1:p.Arg487Ile