Canonical Allele Identifier: CA378369395
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110573731G>T , CM000672.2:g.110573731G>T GRCh38
NC_000010.10:g.112333489G>T , CM000672.1:g.112333489G>T GRCh37
NC_000010.9:g.112323479G>T NCBI36
NG_012217.1:g.11041G>T , LRG_774:g.11041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.249G>T
ENST00000687823.1:n.45-1605G>T
ENST00000689932.1:n.589G>T
ENST00000691297.1:n.249G>T
ENST00000691527.1:n.206G>T
ENST00000692792.1:n.235G>T
ENST00000361804.5:c.116G>T MANE Select ENSP00000354720.5:p.Ser39Ile
ENST00000361804.4:c.116G>T ENSP00000354720.4:p.Ser39Ile
ENST00000462899.1:n.262G>T
NM_005445.3:c.116G>T , LRG_774t1:c.116G>T NP_005436.1:p.Ser39Ile
NM_005445.4:c.116G>T MANE Select NP_005436.1:p.Ser39Ile