Canonical Allele Identifier: CA378376098

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112341734C>G (hg19) ; chr10:g.110581976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110581976C>G , CM000672.2:g.110581976C>G	GRCh38
NC_000010.10:g.112341734C>G , CM000672.1:g.112341734C>G	GRCh37
NC_000010.9:g.112331724C>G	NCBI36
NG_012217.1:g.19286C>G , LRG_774:g.19286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.734C>G
ENST00000687823.1:n.515C>G
ENST00000689932.1:n.2664C>G
ENST00000691297.1:n.734C>G
ENST00000691527.1:n.1404C>G
ENST00000692792.1:n.720C>G
ENST00000361804.5:c.601C>G MANE Select	ENSP00000354720.5:p.His201Asp
ENST00000361804.4:c.601C>G	ENSP00000354720.4:p.His201Asp
ENST00000462899.1:n.747C>G
NM_005445.3:c.601C>G , LRG_774t1:c.601C>G	NP_005436.1:p.His201Asp
NM_005445.4:c.601C>G MANE Select	NP_005436.1:p.His201Asp