Canonical Allele Identifier: CA378371884
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110577475T>C , CM000672.2:g.110577475T>C GRCh38
NC_000010.10:g.112337233T>C , CM000672.1:g.112337233T>C GRCh37
NC_000010.9:g.112327223T>C NCBI36
NG_012217.1:g.14785T>C , LRG_774:g.14785T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.386T>C
ENST00000687823.1:n.167T>C
ENST00000689932.1:n.2316T>C
ENST00000691297.1:n.386T>C
ENST00000691527.1:n.343T>C
ENST00000692792.1:n.372T>C
ENST00000361804.5:c.253T>C MANE Select ENSP00000354720.5:p.Ser85Pro
ENST00000361804.4:c.253T>C ENSP00000354720.4:p.Ser85Pro
ENST00000462899.1:n.399T>C
NM_005445.3:c.253T>C , LRG_774t1:c.253T>C NP_005436.1:p.Ser85Pro
NM_005445.4:c.253T>C MANE Select NP_005436.1:p.Ser85Pro