Canonical Allele Identifier: CA378369944

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112335129C>G (hg19) ; chr10:g.110575371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575371C>G , CM000672.2:g.110575371C>G	GRCh38
NC_000010.10:g.112335129C>G , CM000672.1:g.112335129C>G	GRCh37
NC_000010.9:g.112325119C>G	NCBI36
NG_012217.1:g.12681C>G , LRG_774:g.12681C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.299C>G
ENST00000687823.1:n.80C>G
ENST00000689932.1:n.2229C>G
ENST00000691297.1:n.299C>G
ENST00000691527.1:n.256C>G
ENST00000692792.1:n.285C>G
ENST00000361804.5:c.166C>G MANE Select	ENSP00000354720.5:p.Leu56Val
ENST00000361804.4:c.166C>G	ENSP00000354720.4:p.Leu56Val
ENST00000462899.1:n.312C>G
NM_005445.3:c.166C>G , LRG_774t1:c.166C>G	NP_005436.1:p.Leu56Val
NM_005445.4:c.166C>G MANE Select	NP_005436.1:p.Leu56Val