Canonical Allele Identifier: CA378369400
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573732T>A , CM000672.2:g.110573732T>A GRCh38
NC_000010.10:g.112333490T>A , CM000672.1:g.112333490T>A GRCh37
NC_000010.9:g.112323480T>A NCBI36
NG_012217.1:g.11042T>A , LRG_774:g.11042T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.250T>A
ENST00000687823.1:n.45-1604T>A
ENST00000689932.1:n.590T>A
ENST00000691297.1:n.250T>A
ENST00000691527.1:n.207T>A
ENST00000692792.1:n.236T>A
ENST00000361804.5:c.117T>A MANE Select ENSP00000354720.5:p.Ser39Arg
ENST00000361804.4:c.117T>A ENSP00000354720.4:p.Ser39Arg
ENST00000462899.1:n.263T>A
NM_005445.3:c.117T>A , LRG_774t1:c.117T>A NP_005436.1:p.Ser39Arg
NM_005445.4:c.117T>A MANE Select NP_005436.1:p.Ser39Arg