Canonical Allele Identifier: CA378376262

Gene: SMC3

Linked Data

• COSMIC: COSM4431540
• MyVariant Identifiers: chr10:g.112341758G>A (hg19) ; chr10:g.110582000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110582000G>A , CM000672.2:g.110582000G>A	GRCh38
NC_000010.10:g.112341758G>A , CM000672.1:g.112341758G>A	GRCh37
NC_000010.9:g.112331748G>A	NCBI36
NG_012217.1:g.19310G>A , LRG_774:g.19310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.758G>A
ENST00000687823.1:n.539G>A
ENST00000689932.1:n.2688G>A
ENST00000691297.1:n.758G>A
ENST00000691527.1:n.1428G>A
ENST00000692792.1:n.744G>A
ENST00000361804.5:c.625G>A MANE Select	ENSP00000354720.5:p.Glu209Lys
ENST00000361804.4:c.625G>A	ENSP00000354720.4:p.Glu209Lys
ENST00000462899.1:n.771G>A
NM_005445.3:c.625G>A , LRG_774t1:c.625G>A	NP_005436.1:p.Glu209Lys
NM_005445.4:c.625G>A MANE Select	NP_005436.1:p.Glu209Lys