Canonical Allele Identifier: CA378394214

Gene: SMC3

Linked Data

• MyVariant Identifiers: chr10:g.112361827A>T (hg19) ; chr10:g.110602069A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602069A>T , CM000672.2:g.110602069A>T	GRCh38
NC_000010.10:g.112361827A>T , CM000672.1:g.112361827A>T	GRCh37
NC_000010.9:g.112351817A>T	NCBI36
NG_012217.1:g.39379A>T , LRG_774:g.39379A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5229A>T
ENST00000685743.1:n.2704A>T
ENST00000686057.1:n.1347A>T
ENST00000689321.1:n.1959A>T
ENST00000689986.1:n.785A>T
ENST00000361804.5:c.2996A>T MANE Select	ENSP00000354720.5:p.Lys999Met
ENST00000361804.4:c.2996A>T	ENSP00000354720.4:p.Lys999Met
NM_005445.3:c.2996A>T , LRG_774t1:c.2996A>T	NP_005436.1:p.Lys999Met
NM_005445.4:c.2996A>T MANE Select	NP_005436.1:p.Lys999Met