Canonical Allele Identifier: CA471506047
Gene: SMC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112361588T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601830T>C , CM000672.2:g.110601830T>C GRCh38
NC_000010.10:g.112361588T>C , CM000672.1:g.112361588T>C GRCh37
NC_000010.9:g.112351578T>C NCBI36
NG_012217.1:g.39140T>C , LRG_774:g.39140T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5071T>C
ENST00000685743.1:n.2546T>C
ENST00000686057.1:n.1189T>C
ENST00000689321.1:n.1801T>C
ENST00000689986.1:n.627T>C
ENST00000361804.5:c.2838T>C MANE Select ENSP00000354720.5:p.Leu946=
ENST00000361804.4:c.2838T>C ENSP00000354720.4:p.Leu946=
NM_005445.3:c.2838T>C , LRG_774t1:c.2838T>C NP_005436.1:p.Leu946=
NM_005445.4:c.2838T>C MANE Select NP_005436.1:p.Leu946=