Canonical Allele Identifier: CA378377240
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110582051A>G , CM000672.2:g.110582051A>G GRCh38
NC_000010.10:g.112341809A>G , CM000672.1:g.112341809A>G GRCh37
NC_000010.9:g.112331799A>G NCBI36
NG_012217.1:g.19361A>G , LRG_774:g.19361A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.809A>G
ENST00000687823.1:n.590A>G
ENST00000689932.1:n.2739A>G
ENST00000691297.1:n.809A>G
ENST00000691527.1:n.1479A>G
ENST00000692792.1:n.795A>G
ENST00000361804.5:c.676A>G MANE Select ENSP00000354720.5:p.Thr226Ala
ENST00000361804.4:c.676A>G ENSP00000354720.4:p.Thr226Ala
NM_005445.3:c.676A>G , LRG_774t1:c.676A>G NP_005436.1:p.Thr226Ala
NM_005445.4:c.676A>G MANE Select NP_005436.1:p.Thr226Ala