Canonical Allele Identifier: CA378394176

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112361812C>T (hg19) ; chr10:g.110602054C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602054C>T , CM000672.2:g.110602054C>T	GRCh38
NC_000010.10:g.112361812C>T , CM000672.1:g.112361812C>T	GRCh37
NC_000010.9:g.112351802C>T	NCBI36
NG_012217.1:g.39364C>T , LRG_774:g.39364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5214C>T
ENST00000685743.1:n.2689C>T
ENST00000686057.1:n.1332C>T
ENST00000689321.1:n.1944C>T
ENST00000689986.1:n.770C>T
ENST00000361804.5:c.2981C>T MANE Select	ENSP00000354720.5:p.Ser994Phe
ENST00000361804.4:c.2981C>T	ENSP00000354720.4:p.Ser994Phe
NM_005445.3:c.2981C>T , LRG_774t1:c.2981C>T	NP_005436.1:p.Ser994Phe
NM_005445.4:c.2981C>T MANE Select	NP_005436.1:p.Ser994Phe