Canonical Allele Identifier: CA378387772

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349682A>G (hg19) ; chr10:g.110589924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589924A>G , CM000672.2:g.110589924A>G	GRCh38
NC_000010.10:g.112349682A>G , CM000672.1:g.112349682A>G	GRCh37
NC_000010.9:g.112339672A>G	NCBI36
NG_012217.1:g.27234A>G , LRG_774:g.27234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1342A>G
ENST00000684988.1:n.2087A>G
ENST00000687823.1:n.1356A>G
ENST00000689932.1:n.3505A>G
ENST00000691297.1:n.1575A>G
ENST00000691527.1:n.2245A>G
ENST00000692792.1:n.1561A>G
ENST00000361804.5:c.1442A>G MANE Select	ENSP00000354720.5:p.Gln481Arg
ENST00000361804.4:c.1442A>G	ENSP00000354720.4:p.Gln481Arg
NM_005445.3:c.1442A>G , LRG_774t1:c.1442A>G	NP_005436.1:p.Gln481Arg
NM_005445.4:c.1442A>G MANE Select	NP_005436.1:p.Gln481Arg