Canonical Allele Identifier: CA378387587
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110589896T>G , CM000672.2:g.110589896T>G GRCh38
NC_000010.10:g.112349654T>G , CM000672.1:g.112349654T>G GRCh37
NC_000010.9:g.112339644T>G NCBI36
NG_012217.1:g.27206T>G , LRG_774:g.27206T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684797.1:n.1314T>G
ENST00000684988.1:n.2059T>G
ENST00000687823.1:n.1328T>G
ENST00000689932.1:n.3477T>G
ENST00000691297.1:n.1547T>G
ENST00000691527.1:n.2217T>G
ENST00000692792.1:n.1533T>G
ENST00000361804.5:c.1414T>G MANE Select ENSP00000354720.5:p.Leu472Val
ENST00000361804.4:c.1414T>G ENSP00000354720.4:p.Leu472Val
NM_005445.3:c.1414T>G , LRG_774t1:c.1414T>G NP_005436.1:p.Leu472Val
NM_005445.4:c.1414T>G MANE Select NP_005436.1:p.Leu472Val