Canonical Allele Identifier: CA378387798

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112349685C>T (hg19) ; chr10:g.110589927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110589927C>T , CM000672.2:g.110589927C>T	GRCh38
NC_000010.10:g.112349685C>T , CM000672.1:g.112349685C>T	GRCh37
NC_000010.9:g.112339675C>T	NCBI36
NG_012217.1:g.27237C>T , LRG_774:g.27237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684797.1:n.1345C>T
ENST00000684988.1:n.2090C>T
ENST00000687823.1:n.1359C>T
ENST00000689932.1:n.3508C>T
ENST00000691297.1:n.1578C>T
ENST00000691527.1:n.2248C>T
ENST00000692792.1:n.1564C>T
ENST00000361804.5:c.1445C>T MANE Select	ENSP00000354720.5:p.Ala482Val
ENST00000361804.4:c.1445C>T	ENSP00000354720.4:p.Ala482Val
NM_005445.3:c.1445C>T , LRG_774t1:c.1445C>T	NP_005436.1:p.Ala482Val
NM_005445.4:c.1445C>T MANE Select	NP_005436.1:p.Ala482Val