Canonical Allele Identifier: CA378369849

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112335109T>G (hg19) ; chr10:g.110575351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575351T>G , CM000672.2:g.110575351T>G	GRCh38
NC_000010.10:g.112335109T>G , CM000672.1:g.112335109T>G	GRCh37
NC_000010.9:g.112325099T>G	NCBI36
NG_012217.1:g.12661T>G , LRG_774:g.12661T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.279T>G
ENST00000687823.1:n.60T>G
ENST00000689932.1:n.2209T>G
ENST00000691297.1:n.279T>G
ENST00000691527.1:n.236T>G
ENST00000692792.1:n.265T>G
ENST00000361804.5:c.146T>G MANE Select	ENSP00000354720.5:p.Leu49Arg
ENST00000361804.4:c.146T>G	ENSP00000354720.4:p.Leu49Arg
ENST00000462899.1:n.292T>G
NM_005445.3:c.146T>G , LRG_774t1:c.146T>G	NP_005436.1:p.Leu49Arg
NM_005445.4:c.146T>G MANE Select	NP_005436.1:p.Leu49Arg