Canonical Allele Identifier: CA378371334

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112337186C>G (hg19) ; chr10:g.110577428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577428C>G , CM000672.2:g.110577428C>G	GRCh38
NC_000010.10:g.112337186C>G , CM000672.1:g.112337186C>G	GRCh37
NC_000010.9:g.112327176C>G	NCBI36
NG_012217.1:g.14738C>G , LRG_774:g.14738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.339C>G
ENST00000687823.1:n.120C>G
ENST00000689932.1:n.2269C>G
ENST00000691297.1:n.339C>G
ENST00000691527.1:n.296C>G
ENST00000692792.1:n.325C>G
ENST00000361804.5:c.206C>G MANE Select	ENSP00000354720.5:p.Thr69Ser
ENST00000361804.4:c.206C>G	ENSP00000354720.4:p.Thr69Ser
ENST00000462899.1:n.352C>G
NM_005445.3:c.206C>G , LRG_774t1:c.206C>G	NP_005436.1:p.Thr69Ser
NM_005445.4:c.206C>G MANE Select	NP_005436.1:p.Thr69Ser