Canonical Allele Identifier: CA378387808

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349687C>A (hg19) ; chr10:g.110589929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589929C>A , CM000672.2:g.110589929C>A	GRCh38
NC_000010.10:g.112349687C>A , CM000672.1:g.112349687C>A	GRCh37
NC_000010.9:g.112339677C>A	NCBI36
NG_012217.1:g.27239C>A , LRG_774:g.27239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1347C>A
ENST00000684988.1:n.2092C>A
ENST00000687823.1:n.1361C>A
ENST00000689932.1:n.3510C>A
ENST00000691297.1:n.1580C>A
ENST00000691527.1:n.2250C>A
ENST00000692792.1:n.1566C>A
ENST00000361804.5:c.1447C>A MANE Select	ENSP00000354720.5:p.Leu483Ile
ENST00000361804.4:c.1447C>A	ENSP00000354720.4:p.Leu483Ile
NM_005445.3:c.1447C>A , LRG_774t1:c.1447C>A	NP_005436.1:p.Leu483Ile
NM_005445.4:c.1447C>A MANE Select	NP_005436.1:p.Leu483Ile