Canonical Allele Identifier: CA378376278

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112341759A>T (hg19) ; chr10:g.110582001A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582001A>T , CM000672.2:g.110582001A>T	GRCh38
NC_000010.10:g.112341759A>T , CM000672.1:g.112341759A>T	GRCh37
NC_000010.9:g.112331749A>T	NCBI36
NG_012217.1:g.19311A>T , LRG_774:g.19311A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.759A>T
ENST00000687823.1:n.540A>T
ENST00000689932.1:n.2689A>T
ENST00000691297.1:n.759A>T
ENST00000691527.1:n.1429A>T
ENST00000692792.1:n.745A>T
ENST00000361804.5:c.626A>T MANE Select	ENSP00000354720.5:p.Glu209Val
ENST00000361804.4:c.626A>T	ENSP00000354720.4:p.Glu209Val
ENST00000462899.1:n.772A>T
NM_005445.3:c.626A>T , LRG_774t1:c.626A>T	NP_005436.1:p.Glu209Val
NM_005445.4:c.626A>T MANE Select	NP_005436.1:p.Glu209Val