Canonical Allele Identifier: CA378369838
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110575348T>G , CM000672.2:g.110575348T>G GRCh38
NC_000010.10:g.112335106T>G , CM000672.1:g.112335106T>G GRCh37
NC_000010.9:g.112325096T>G NCBI36
NG_012217.1:g.12658T>G , LRG_774:g.12658T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.276T>G
ENST00000687823.1:n.57T>G
ENST00000689932.1:n.2206T>G
ENST00000691297.1:n.276T>G
ENST00000691527.1:n.233T>G
ENST00000692792.1:n.262T>G
ENST00000361804.5:c.143T>G MANE Select ENSP00000354720.5:p.Val48Gly
ENST00000361804.4:c.143T>G ENSP00000354720.4:p.Val48Gly
ENST00000462899.1:n.289T>G
NM_005445.3:c.143T>G , LRG_774t1:c.143T>G NP_005436.1:p.Val48Gly
NM_005445.4:c.143T>G MANE Select NP_005436.1:p.Val48Gly