Canonical Allele Identifier: CA378371850
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110577470A>T , CM000672.2:g.110577470A>T GRCh38
NC_000010.10:g.112337228A>T , CM000672.1:g.112337228A>T GRCh37
NC_000010.9:g.112327218A>T NCBI36
NG_012217.1:g.14780A>T , LRG_774:g.14780A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.381A>T
ENST00000687823.1:n.162A>T
ENST00000689932.1:n.2311A>T
ENST00000691297.1:n.381A>T
ENST00000691527.1:n.338A>T
ENST00000692792.1:n.367A>T
ENST00000361804.5:c.248A>T MANE Select ENSP00000354720.5:p.Asp83Val
ENST00000361804.4:c.248A>T ENSP00000354720.4:p.Asp83Val
ENST00000462899.1:n.394A>T
NM_005445.3:c.248A>T , LRG_774t1:c.248A>T NP_005436.1:p.Asp83Val
NM_005445.4:c.248A>T MANE Select NP_005436.1:p.Asp83Val