Canonical Allele Identifier: CA378388011

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349708C>G (hg19) ; chr10:g.110589950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589950C>G , CM000672.2:g.110589950C>G	GRCh38
NC_000010.10:g.112349708C>G , CM000672.1:g.112349708C>G	GRCh37
NC_000010.9:g.112339698C>G	NCBI36
NG_012217.1:g.27260C>G , LRG_774:g.27260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1368C>G
ENST00000684988.1:n.2113C>G
ENST00000687823.1:n.1382C>G
ENST00000689932.1:n.3531C>G
ENST00000691297.1:n.1601C>G
ENST00000691527.1:n.2271C>G
ENST00000692792.1:n.1587C>G
ENST00000361804.5:c.1468C>G MANE Select	ENSP00000354720.5:p.Leu490Val
ENST00000361804.4:c.1468C>G	ENSP00000354720.4:p.Leu490Val
NM_005445.3:c.1468C>G , LRG_774t1:c.1468C>G	NP_005436.1:p.Leu490Val
NM_005445.4:c.1468C>G MANE Select	NP_005436.1:p.Leu490Val