Canonical Allele Identifier: CA378388027

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349711G>A (hg19) ; chr10:g.110589953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589953G>A , CM000672.2:g.110589953G>A	GRCh38
NC_000010.10:g.112349711G>A , CM000672.1:g.112349711G>A	GRCh37
NC_000010.9:g.112339701G>A	NCBI36
NG_012217.1:g.27263G>A , LRG_774:g.27263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1371G>A
ENST00000684988.1:n.2116G>A
ENST00000687823.1:n.1385G>A
ENST00000689932.1:n.3534G>A
ENST00000691297.1:n.1604G>A
ENST00000691527.1:n.2274G>A
ENST00000692792.1:n.1590G>A
ENST00000361804.5:c.1471G>A MANE Select	ENSP00000354720.5:p.Glu491Lys
ENST00000361804.4:c.1471G>A	ENSP00000354720.4:p.Glu491Lys
NM_005445.3:c.1471G>A , LRG_774t1:c.1471G>A	NP_005436.1:p.Glu491Lys
NM_005445.4:c.1471G>A MANE Select	NP_005436.1:p.Glu491Lys