Canonical Allele Identifier: CA378369377
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573729A>T , CM000672.2:g.110573729A>T GRCh38
NC_000010.10:g.112333487A>T , CM000672.1:g.112333487A>T GRCh37
NC_000010.9:g.112323477A>T NCBI36
NG_012217.1:g.11039A>T , LRG_774:g.11039A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.247A>T
ENST00000687823.1:n.45-1607A>T
ENST00000689932.1:n.587A>T
ENST00000691297.1:n.247A>T
ENST00000691527.1:n.204A>T
ENST00000692792.1:n.233A>T
ENST00000361804.5:c.114A>T MANE Select ENSP00000354720.5:p.Lys38Asn
ENST00000361804.4:c.114A>T ENSP00000354720.4:p.Lys38Asn
ENST00000462899.1:n.260A>T
NM_005445.3:c.114A>T , LRG_774t1:c.114A>T NP_005436.1:p.Lys38Asn
NM_005445.4:c.114A>T MANE Select NP_005436.1:p.Lys38Asn