Canonical Allele Identifier: CA378393700
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601779A>T , CM000672.2:g.110601779A>T GRCh38
NC_000010.10:g.112361537A>T , CM000672.1:g.112361537A>T GRCh37
NC_000010.9:g.112351527A>T NCBI36
NG_012217.1:g.39089A>T , LRG_774:g.39089A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5020A>T
ENST00000685743.1:n.2495A>T
ENST00000686057.1:n.1138A>T
ENST00000689321.1:n.1750A>T
ENST00000689986.1:n.576A>T
ENST00000361804.5:c.2787A>T MANE Select ENSP00000354720.5:p.Gln929His
ENST00000361804.4:c.2787A>T ENSP00000354720.4:p.Gln929His
NM_005445.3:c.2787A>T , LRG_774t1:c.2787A>T NP_005436.1:p.Gln929His
NM_005445.4:c.2787A>T MANE Select NP_005436.1:p.Gln929His